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Pregnancy and Childbirth with Neuromuscular Disease

Pregnancy and Childbirth with Neuromuscular Disease

and Childbirth with Neuromuscular

by Margaret Wahl, Amy Labbe and Miriam Davidson

aving a baby can be the most thrilling and rewarding experience of a ’s Hlife, yet it also can be fraught with fear and uncertainty. This is especially true for women with neuromuscular disease. This special MDA report takes a look at the issues that arise for expectant with muscle disease and finds that, with proper care and planning, these women are usually — although not always — able to have successful and give to healthy children. The report contains information from the July-September 2010 issue of MDA’s Quest magazine, as well as additional information not found in the print magazine.

Contents include:

Caution, Preparation and Teamwork Lead to the Best Pregnancy Outcomes in Women with Neuromuscular ...... 2

Disease-Specific Complications (chart)...... 7

Good Advice from Women Who’ve Been There...... 11

Medication Complications for Pregnant Women with Neuromuscular Disease (chart)...... 17

Personal Stories Diagnosis Later in Life...... 3 Baby Born with Challenges...... 4 Scared and Worried...... 6 Achieving All Her Goals ...... 9 Worth the Effort ...... 10 The Nurse Called It ‘Fred’s Ataxia’...... 12 A Turn of Fate...... 15 Surprise Pregnancies...... 16

In addition, listen to a podcast of an interview with neurologist Emma Ciafaloni and obstetrician Eva Pressman by going to quest.mda.org/podcasts.

1 Caution, Preparation and Teamwork Lead to the Best Pregnancy Outcomes in Women with Neuromuscular Diseases

hen Emma Ciafaloni was prepar- veyed reported worsen- Wing to become a neuromuscular ing of FSHD symptoms disease specialist in the 1990s, and that for the most part did even when she directed the MDA not resolve after - neuromuscular disease clinic at Duke birth. The most common University in the early 2000s, she was problems were, in order struck by the lack of information she of frequency: worsening could offer patients who wanted to of generalized weakness, become pregnant. frequent falling, difficulty “I really have an interest in women carrying the newborn and neuromuscular diseases, in what due to worsening shoul- we can do better for them in dealing der weakness, worsening with their neuromuscular disease and or new-onset pain, and also with pregnancy,” says Ciafaloni, difficulty carrying the now at the University of Rochester newborn due to worsen- Medical Center, where she sees patients ing of leg weakness. An echocardiogram to evaluate function prior to becoming pregnant can help with decision making. in the MDA clinic and has received Despite some child- MDA research support. birth complications and possible per- First, some red flags: “I’m very interested in how to best manent worsening of their FSHD, 90 care for patients. I’m not the one who’s percent of the women said they would Cardiac involvement going to discover the treatment for choose pregnancy again. Cardiac involvement can occur in many FSHD [facioscapulohumeral muscular Eva Pressman, director of maternal- neuromuscular diseases and, if it’s dystrophy] or myotonic dystrophy, but fetal at the University of severe, can be a major problem for I’m very interested in good standards Rochester, collaborated with Ciafaloni women considering pregnancy. of care.” and others on the FSHD study. “The Pregnancy leads to a significant Ciafaloni’s interest ultimately led her important thing about our study was increase in cardiac output, as well as a to collaborate with several colleagues that the outcomes were really good,” 50-percent increase in volume, in the departments of neurology and she says. “It’s important for patients so the heart does “much, much more and gynecology to conduct to know that just because they have an work,” says Pressman. “And if you go a study of pregnancy in women with underlying disorder, that doesn’t mean into the pregnancy with a heart that’s FSHD. The results were published in that pregnancy is contraindicated. With functioning less than optimally, it will 2006 in the journal Neurology. appropriate and going into clearly deteriorate over the course of The researchers administered ques- the pregnancy with your eyes open as the pregnancy. That can lead to heart tionnaires to, and reviewed the medical to what the risks might be, I think most failure in the and endanger both records of, 38 women with FSHD. On patients can be quite successful.” the mother and the , depending the whole, pregnancy outcomes were But not all neuromuscular disorders, on when in the pregnancy those issues good in this group, although the rates let alone all women or all babies, are occur. The most common time for heart of operative deliveries (Caesareans the same. And even with conditions problems is the end of the second and forceps deliveries) and babies with like FSHD, where the odds of having a trimester or the beginning of the third low birth weights were higher than the successful outcome appear to be good, trimester.” national average. there are steps women can take to Pressman strongly recommends About one in four of the women sur- improve them. that patients who are at risk for cardiac

2 dysfunction have echocardiograms existing impairment can become more before pregnancy to evaluate their problematic. heart function and “really consider not “We see women who have reason- becoming pregnant if they have signifi- able respiratory function prior to preg- cant cardiac dysfunction.” nancy that deteriorate as the pregnancy And if they’re already pregnant and progresses,” Pressman says. They want to continue the pregnancy despite generally recover to their pre-pregnancy their heart problem? “Then you do the level after delivery, she notes, but they best you can,” Pressman says. “You may require extra support (such as can manage some of it with medica- noninvasive assisted ventilation) during tions, you can keep their fluid status the pregnancy. at an optimal level, and we can usually Says Pressman, “We often end up get them through to the point where delivering a little bit early, because the the baby is viable. But often we deliver respiratory impairment only gets worse these patients early, to minimize the towards the end of pregnancy, and stress on the heart.” sometimes the safest thing is to not be pregnant anymore.” Immunosuppressant medications that aren’t Weak respiratory muscles corticosteroids can pose some problems. See Weakness of the respiratory muscles Unstable autoimmune disease “Medication Complications for Pregnant Women with Neuromuscular Disease” on page 17. can also be a problem for pregnant It’s critical that women with autoim- women with muscle disease. As the mune disease are medically stable and they try to get pregnant, says Hannah pregnancy progresses, the work of on a stable regimen of medications Briemberg, a neurologist and assistant breathing becomes harder, so any for at least six to 12 months before professor in the neuromuscular dis-

Diagnosis the natural way and almost lost her,” Rivera recalled. “I had to Late in Life have an emergency C-section [Caesarean], and she had to be resuscitated.” During her second pregnancy at age 33, Rivera’s still-undi- Kathy Rivera, 58 agnosed CMT noticeably worsened. Her legs were so sore when Tucson, Ariz. she woke up that she couldn’t get out of bed. “We put the bed type 2 Charcot- next to the wall so I could climb up the wall to get to a standing Marie-Tooth disease . I thought, ‘I’m not having any more kids.’” As with her first pregnancy, Rivera had high blood sugar. Her ike many people son was born healthy via a planned C-section. with Charcot- L Rivera’s symptoms continued to worsen, and it was her Marie-Tooth (CMT), Kathy Rivera, her husband, Tom, and their two daughter who convinced her to see a neurologist. “My 6-year-old Kathy Rivera didn’t children, in 1985 said to me, ‘Mom, why don’t you pick up your feet?’” realize she had a neuro- Today, Rivera wears braces on both legs and no longer muscular disease until relatively late in life. Called “clumsy” as a works. She loved her job as a bakery manager at Safeway, but child, she wore special shoes to keep her feet facing forward, but her doctor advised her to quit. In recent years, Rivera has devel- didn’t receive an official diagnosis of CMT until age 36. oped nerve compression requiring surgery in both wrists (likely Rivera received almost no medical care growing up, which related to CMT) and spinal cord inflammation (which may or partially explains the late diagnosis. She moved a lot, spent time may not be related to CMT). in and was raised primarily by an uncle. Her symp- Rivera believes her now- daughter may have CMT too, toms were shrugged off as “growing pains.” although she’s never been tested. Her daughter decided not to Rivera married and had her first child, a healthy , at age have children, but instead adopted a little girl. In an ironic twist, 27. For reasons probably unrelated to CMT, Rivera had high Rivera’s adopted grandchild has muscle problems and is being blood sugar during the pregnancy and, during the birth, her tested at the MDA clinic in Tucson for possible neuromuscular (entrance to the ) didn’t open. “I tried to give birth disease — receiving the care and attention that Rivera never did.

3 Baby Born with from muscle weakness). She almost didn’t survive her first night Challenges and had to be rushed to a that had a neonatal intensive care unit, where she spent six weeks before her could Liz Trumpy, 39 take her home. Levittown, N.Y. It was only after Kelly’s birth that Trumpy learned she has type 1 myotonic dystrophy the adult-onset form of type 1 myotonic dystrophy (MMD1, also sometimes called DM1), a widely variable form of muscular iz Trumpy was an active, dystrophy that can cause congenital MMD in of affected Lapparently healthy New women. (Men with MMD1 can father children with congenital Liz Trumpy and her daughter, Kelly, who York City police captain who was born in January 2009 MMD1, although it’s much more likely to occur when the mother worked out with weights, ran a is affected. Each child from a mother with MMD1 has a 50-50 marathon and participated in mini-triathlons. Married to another chance of having MMD1, although not necessarily the severe, police officer, she went to the gym regularly throughout her congenital form of the disease.) pregnancy, even on the day before she gave birth. Trumpy retired from the police force to take care of Kelly, “If Kelly had been born without health problems, I would and their days are full of visits with therapists, including speech, have said I had a picture-perfect pregnancy,” says Trumpy. physical, occupational and educational. At 15 months, Kelly can But, to Trumpy’s shock and that of her doctors, her baby walk using a walker, and talks , although she has yet to had congenital myotonic muscular dystrophy, the most severe say her first word. She’s learning sign language. Her heart and form of the disease. Congenital MMD can cause problems with are all right. the heart, lungs, and cognitive functioning, in addition to muscle Trumpy wishes she’d known about her MMD so she could weakness and wasting. have been better prepared for Kelly’s birth. She would have cho- Kelly had a rough start. She was two weeks late, so doctors sen a different hospital and a doctor more familiar with the kinds induced her birth. When labor failed to progress, and Kelly’s of issues that can arise for pregnant women with neuromuscular heart rate began to drop, a Caesarean was performed. Kelly disease. As it was, she felt some members of her medical team didn’t make any sound at first, and then, after a few moments, were cold to her, as if they blamed her for Kelly’s condition. managed only a weak cry. Trumpy says she prefers to look forward, not back, and now Kelly had very low muscle tone, fluid in her lungs and a club- that she has the support she needs, she’s able to focus on provid- foot (a foot that’s abnormally turned inward, which can occur ing Kelly the best future possible. “She is our gift,” Trumpy says.

eases unit at the University of British autoimmune diseases is the temporary that women with myositis who were in Columbia (Canada) in Vancouver. of the disease to the remission at the time of their pregnancy The neuromuscular autoimmune baby, causing him or her to be born and delivery did not appear to be at risk diseases in MDA’s program — poly- floppy and possibly with swallowing for obstetric complications. However, myositis, dermatomyositis, myasthenia or breathing difficulties. (The phenom- she found, women with active disease gravis and Lambert-Eaton myasthenic enon occurs because the at the time of their pregnancies had an syndrome — are generally treated with the mother’s immune system produces increased incidence of spontaneous immunosuppressive drugs and some- that weaken her own muscles can cross , premature delivery and low- times other medications. the and weaken the baby’s birth-weight infants. The highest risk In a paper she published in 2007 muscles, at least temporarily.) was associated with new-onset disease in the journal Seminars in Neurology, That doesn’t seem to occur as often during the first trimester of pregnancy. Briemberg found that pregnancy does as it used to, Briemberg says, some- In these women, the rate of fetal not appear to alter the long-term out- thing she attributes to better MG care was very high (although the number of come of myasthenia gravis (MG) but and mothers whose disease is better women studied was small). that, if the disease is not yet stable controlled during pregnancy. Although there are risks associated before conception, there is more risk Women with polymyositis or der- with the use of disease-controlling that it will worsen during pregnancy. matomyositis also need to have their medications during pregnancy, A phenomenon that can occur in MG disease under control, preferably before Briemberg advises that these risks are, but does not seem to occur in other getting pregnant. Briemberg found in general, preferable to the risk of

4 being pregnant and having an uncon- experience suggest that prednisone, trolled autoimmune disease. azathioprine and IVIG [intravenous Corticosteroid drugs, such as pred- immunoglobulins] are unlikely to pose nisone, are often prescribed for autoim- any significantly increased risk of fetal mune diseases, and generally appear to malformation,” Briemberg says. “There be fairly safe during pregnancy. is not enough data on other immuno- “Prednisone doesn’t cross the pla- suppressive medications to know if centa very well,” says Eva Pressman, they are safe in pregnancy, so most “so it’s one of the safer medications to clinicians will recommend coming off use during pregnancy, because most of these other medications prior to trying it is going to the mother, with very little to conceive.” of it getting to the baby.” It’s not entire- ly without risk, however. Prednisone Myotonic dystrophy — and related medications can interfere a special case with the growth of the fetus and have Most neuromuscular diseases affect been associated with premature rup- mainly the voluntary muscles (in the ture of the , possibly by limbs, trunk, head, face, and swal- Kelly Trumpy, born with congenital myotonic dystro- phy, is learning to walk using a posterior walker. interfering with collagen formation, she lowing and breathing structures). The notes. heart, though not a voluntary muscle, far, this phenomenon has not been seen Pressman adds that it can be impos- also is affected in many neuromuscular in type 2 MMD. (Type 1 MMD is caused sible to determine whether problems diseases. by an expansion of DNA on chromo- are from the effects of prednisone or But myotonic dystrophy (MMD) some 19, while type 2 MMD, a similar the effects of the mother’s underlying affects not only the voluntary muscles disease, is caused by an expansion of disease. and the heart, but the involuntary, or DNA on chromosome 3.) Another issue with corticosteroids “smooth,” muscles that line the hollow Babies with congenital MMD can is that, if they’re given for a long period organs, such as the gastrointestinal be born very floppy, with respiratory of time, they can suppress the function tract, urinary tract, uterus and . impairment and sucking and swallow- of the adrenal glands, which normally Abnormalities of uterine and vaginal ing difficulties, for which the obstetric pump out high levels of the stress-cop- muscle function (either weakness or and pediatric teams must be prepared. ing hormone cortisol during labor and myotonia, the inability to relax muscles) Normally, babies swallow some of delivery. Therefore, in general, doctors can have severe adverse effects on the mother’s , the watery recommend that women who have been labor and delivery. substance that surrounds the baby in on prednisone or other corticosteroids “If the uterus is actually affected, the uterus. But a baby with congenital be given intravenous corticosteroids then labor may not progress well,” MMD can have so much swallowing (hydrocortisone) during labor and Pressman says, “and you may not be impairment that excess amniotic fluid delivery. able to have a . We accumulates, further endangering Immunosuppressant medications can try to alter that with [a mother and baby. that aren’t corticosteroids pose differ- labor-stimulating hormone] or other Excess amniotic fluid, called “poly- ent types of concerns. See the chart medications, but if you can’t make the hydramnios,” can cause premature “Medication Complications for Pregnant uterus contract, then you would need a rupture of the membranes and prema- Women with Neuromuscular Disease” C-section [Caesarean] to deliver.” ture onset of labor, sometimes before on page 17. In addition, people with MMD are the baby is ready to be born. If the None of these medications have especially sensitive to pain-relieving membranes don’t rupture prematurely, been systematically studied in pregnant medications and can have abnormal the uterus can become so distended women, Briemberg notes, so most of reactions to , so there are that the mother’s breathing is impaired the data comes from animal experi- additional worries on this account. and blood vessels can be compressed. ments or data collected from women A very severe form of MMD called Excess bleeding after delivery (postpar- who happened to get pregnant while congenital MMD can occur in offspring tum) is also associated with an over- taking one of them. of women with type 1 MMD who may distended uterus during the pregnancy. “At this point, the clinical data and themselves be minimally affected. So “If you have a baby with limited

5 swallowing ability and you have poly- Almost any pregnant woman with a icine specialist at Ohio State University hydramnios, and you’ve overstretched neuromuscular disease can have difficulty Medical Center in Columbus, has seen the uterus because of that, then even a with at least two of the three p’s, the pas- small “juvenile-type” in several normal uterus doesn’t contract well,” sageway and the powers. And, if those of his patients with spinal muscular atro- Pressman says. With a uterus affected difficulties are serious, they can affect the phy (SMA). He prefers to do a C-section by MMD, she notes, “your risk of post- passenger as well. in these cases. partum hemorrhage is much higher.” In addition, can pose Says Pressman, “It’s not required some special challenges for some women to have a C-section just because of a Planning Ahead: Five P’s with neuromuscular disease, and some- small pelvic diameter, but it would be times pregnancy can have some long-term the kind of thing where you would have Traditionally, obstetricians and adverse effects on disease progression. the discussion ahead of time, watch the have thought about pregnancy, labor and Thinking of pregnancy and delivery in progress of labor, and perhaps not wait delivery in terms of three p’s: the passen- terms of the five P’s can help women with through three or four days of labor before ger (baby), the passageway (the mother’s neuromuscular disease plan ahead. deciding enough is enough.” bone structure and soft tissues of the Sometimes, contractures (joints fro- birth canal), and the powers (the invol- The passageway for zen in one position) in the hips, knees or untary contractions of the uterus and the the passenger spine can pose an impediment to delivery voluntary pushing efforts of the mother’s Several factors can affect the passageway. and may lead a physician to recommend abdominal muscles). “The size of the mother’s a C-section. To this classical way of looking at is clearly important and can affect a Spinal curvatures — and sometimes things, two more p’s can be added: pain woman’s ability to have a safe vaginal the surgical procedures performed to management and pregnancy-disease delivery,” says Eva Pressman. interaction. David Colombo, a maternal-fetal med- … continued on page 9

Scared and more frequently, and her wrist weakness grew more pro- Worried nounced. Chamernik suspected she had ALS; unfortunately, she was right. Aimee Chamernik, 40 Although her ALS was not formally diagnosed until a year Grayslake, Ill. after her third child was born, Chamernik spent most of her amyotrophic lateral last pregnancy feeling scared and worried. sclerosis (ALS) “It’s easier now to look back and realize that ALS had little, if any, impact on my pregnancy,” Chamernik says. imee Chamernik was 33 and just beginning her third “However, at the time, I was awake late, late into the night a Apregnancy when she noticed she was having difficulty lot, worrying about my baby, crying about my other children enunciating as she read to her son at bedtime. “I thought possibly having to grow up without a mom based on what it was odd, but I chalked it up to being tired after caring was happening to me, tormenting myself while researching for two small children all day with a third on the way,” the possibilities (which was a terrible idea, but one I couldn’t Chamernik says. seem to resist). I wish I hadn’t wasted so much time wor- Chamernik mentioned the problem to her obstetrician rying and crying — it didn’t accomplish anything except at her next prenatal appointment, and was referred to a making me lose sleep, and it didn’t prevent my eventual ALS neurologist, who tentatively diagnosed her with myasthenia diagnosis.” gravis, an autoimmune neuromuscular disease, and put her Chamernik had no problems with the labor and delivery of on Mestinon (pyridostigmine bromide). But when her speech her third child. “One thing I wish I had understood better and continued to slur and deteriorate, and she noticed some believed more strongly is that the changes that were hap- weakness in her right wrist, she sought a second opinion. pening to me had little or no impact on my baby,” she says. Further tests ruled out myasthenia gravis, and Chamernik “He grew and developed and hit every milestone, despite the stopped taking Mestinon. weakening of my throat and mouth muscles. At the time, Throughout the rest of her pregnancy, Chamernik’s though, no amount of reassurance from doctors could ever speech continued to slowly worsen, she began to choke truly allay my fears.”

6 Disease-Specific Complications Disease Complicating Factors Associated Risks ALS (amyotrophic lat- generalized weakness and mus- • risk of respiratory failure eral sclerosis, or Lou cle atrophy; paralysis; respira- • weakened muscles may decrease ability to push during delivery Gehrig’s disease) tory insufficiency • increased rate of delivery interventions*

weakness in the hips, shoul- carnitine deficiency • decreased levels of carnitine caused by pregnancy can lead to irrevers- ders, and upper arms and (CD) ible muscle damage; deterioration can continue even after childbirth legs; heart muscle weakness

episodic muscle pain, weak- carnitine palmityl- ness and tenderness; in some • outcomes vary widely, from uncomplicated vaginal delivery to transferase deficiency women, smooth uterine postpartum hemorrhage and emergency hysterectomy (CPT) muscle may be impaired episodic muscle pain, weak- central core disease ness and tenderness; in some • high risk of malignant hyperthermia if general anesthesia is used (CCD) women, smooth uterine muscle may be impaired • exacerbation of weakness (sometimes temporary, sometimes not) muscle weakness and atrophy; Charcot-Marie-Tooth • higher rate of abnormal fetal positioning contractures; possible curva- disease (CMT) • significant increase in delivery interventions* ture of the spine • increased risk of or hemorrhage • outcome of pregnancy is closely linked with mother’s health. When the disease is active, there’s a higher risk of spontaneous abortion, intra- uterine growth retardation, fetal , premature delivery and low-birth- weakness and pain in the mus- dermatomyositis weight infants. When the disease is in remission, there appears to be cles of the hips, thighs, back, (DM) and minimal risk to mother and fetus. shoulders and neck; possible polymyositis (PM) • extreme muscle weakness may necessitate assisted labor and delivery* heart and respiratory problems • PM and DM may cause elevated blood levels of creatine kinase (an enzyme that leaks from damaged muscles) in the newborn for a few months after birth • increased muscle weakness during pregnancy that may not resolve after facioscapulohumeral childbirth; worsening or new onset pain muscle weakness in legs, muscular dystrophy • reduced ability to push during labor, leading to increased incidence of abdominal and hip muscles (FSHD) delivery interventions* • increased incidence of low birth weights loss of balance and coordina- tion; weakness in the legs, arms • may aggravate diabetic or borderline diabetic condition Friedreich’s ataxia and hands; muscle spasticity; • cardiac problems may worsen; the heart may not be able to pump (FA) skeletal abnormalities; cardiac enough blood to the body and to the placenta, depriving both mother abnormalities; possible diabetes and baby of oxygen; heart deterioration may lead to heart failure or glucose intolerance weakness and atrophy of the limb-girdle muscular • possible worsening of weakness, with some recovery after delivery muscles of the shoulders and dystrophy (LGMD) • higher risk of hips muscle weakness in the trunk; multi-minicore respiratory problems; • increased risk of developing anesthesia-induced malignant hypothermia disease (MMD) skeletal deformities; spinal curvature

7 Disease-Specific Complications Disease Factors Associated Risks • clinical worsening during pregnancy and in the month following child- birth; subsequent pregnancies in the same woman may have different relapse patterns • risk factors that could cause : respiratory failure, cholin- ergic crisis (overstimulation of the due to an excess of acetylcholine), pre-, and postpartum hemorrhage • weakness in muscles associated with pushing may necessitate assisted delivery* myasthenia gravis fatigue and some generalized • postpartum exacerbations that often are sudden and associated with (MG) weakness of voluntary muscles respiratory failure • high mortality rate in and newborns up to 4 weeks old • fetal complications including multiple joint contractures due to lack of movement during , and increased risk of death due to underdevelopment • temporary transmission of MG from mother to baby, resulting in poor sucking and swallowing, generalized poor muscle tone and respiratory distress for several months • higher rates of in both women and men may preclude preg- nancy • potential worsening of disease symptoms including muscle weakness and pain; these may disappear after delivery • increased risk of ectopic pregnancies; early spontaneous abortion; generalized muscle weakness excess amniotic fluid; urinary tract in the mother; pre-eclamp- and atrophy in voluntary sia; placenta previa; premature labor/delivery; death of the fetus or new- myotonic dystrophy muscles; born; postpartum hemorrhage type 1 (MMD1, or abnormalities affecting the • problems with the first stage of labor resulting from dysfunction of the DM1) uterus and vagina; heart and smooth muscles of the uterus and vagina respiration problems • deterioration of heart function, possibly leading to heart failure • worsening of respiratory problems • risk of adverse reactions to general anesthesia and pain-killing medica- tions given intravenously during labor • about 25 percent risk of passing along a severe form of the disease, congenital MMD, to the child, if mother has MMD1 • possible hastening of the onset of disease myotonic dystrophy generalized muscle weakness • worsening of disease symptoms including muscle weakness and pain; type 2 (MMD2, or and atrophy; heart and respi- these may disappear after childbirth DM2) ration problems • deterioration of heart function, which may lead to heart failure • worsening of respiratory problems paramyotonia episodes of prolonged muscle • possible worsening of PC symptoms congenita (PC) contraction and/or weakness • worsening of weakness and increased fatigue • increased risk of urinary tract infections muscle weakness in the shoul- • spinal deformities or spinal fusion may interfere with the use of spinal or ders, hips, thighs and upper spinal muscular epidural anesthesia back; respiratory muscle weak- atrophy (SMA) • mother’s contractures may complicate delivery and/or anesthesia ness; skeletal deformity; con- • increased incidence of premature delivery tractures; curvature of the spine • possible loss of sensation or paralysis in the mother due to the pressure of the growing uterus on an abnormally shaped or fused spine *“Delivery interventions” refers to assists used during the birth process such Caesarean delivery (C-section), forceps and vacuum assist.

8 Achieving All cies went fine, other than the babies growing to the left side of Her Goals her belly, rather than to the front (a result of her scoliosis, or spinal curvature). Stacy Wiparina, 35 The , unlike the pregnancies, required special consid- Dayton, Ohio eration. Because of the spinal fusion Wiparina received at age type 2 spinal muscular 12 — “Otherwise I would have to lie down my whole life” — atrophy she could not get epidural anesthesia. Moreover, general anes- thesia would be risky for a person with SMA. tacy Wiparina has Wiparina never went into labor, although it isn’t clear that Snever walked — her SMA had anything to do with that. She lacked the strength never even crawled to push the baby out, and in any case, her pelvis was too small — but she’s achieved for the baby to pass through. When the time came, the doctors all the goals she set for performed a Caesarean (C-section) using several dozen shots of Stacy Wiparina and her baby on the day of herself as a child. “One the child’s baptism local anesthetic as the only pain relief. was driving, another was “I felt the first few shots,” Wiparina reports. “I didn’t look. college, another was having a career, another was having a hus- Once they started to cut, I didn’t feel a whole lot, except for a band, and the most important one of all was being a mother,” really horrible sensation when they were putting my insides she says. back in place.” The experience was frightening, Wiparina said, By the time she was in her early 20s, Wiparina had gone to especially since she was wide awake the whole time. college and learned to drive a van with joy stick computer con- Wiparina went through an identical procedure for the birth trol. She studied to be a school teacher, but had to abandon that of her second child, but “it wasn’t as bad, because I knew what career after contracting viral pneumonia from her students and was coming.” Besides, she adds, lots of women have to go spending three months in the hospital. “The doctor told me, ‘If through more than 45 minutes of discomfort in order to give you want to live, you better not teach,’” Wiparina said. She got birth. a job in marketing instead. Since the birth of her second child, Wiparina has developed Wiparina married her college sweetheart, a tire store man- symptoms of a compressed cauda equina (a bundle of nerves ager, and the couple began to investigate the idea of having at the base of the spine that looks like a horse’s tail). The cauda children. “I’d always been told, ‘You should never try to have equina can become compressed in healthy women, but in kids, there’s no way,’” Wiparina said. “We were scared to death Wiparina’s case, carrying two babies to term while sitting in a because we didn’t know anything.” wheelchair almost certainly caused the condition. Wiparina contacted a high-risk obstetrician, David Colombo, Wiparina has now lost most sensation below her waist, and at Ohio State University Medical Center in Columbus, who it’s doubtful it will ever return. Surgery might be able to correct agreed to help her. He assembled a team, including an anesthe- the condition, but it’s too risky. siologist and another high-risk obstetrician who had experience Wiparina doesn’t regret having children, though. She doing Caesarean deliveries under local anesthesia in Africa. achieved her fondest dream and greatest goal, and if that’s the Wiparina had no problems conceiving, and her two pregnan- price she has to pay for it, she says, so be it.

continued from page 6… strain on the lower back during preg- almost everyone during pregnancy, and nancy, compression of the cauda equina the vast majority of the time, it does not correct them (spinal fusions, often involv- (the “horse’s tail” formation of spinal mean anything is seriously wrong. ing insertion of instruments, such as rods nerves in the lumbar and sacral areas) and screws) — can be a problem. does occasionally occur, even in healthy The powers The growing uterus can press on women, says Hannah Briemberg. The The first stage of labor is one in which an abnormally shaped or fused spine, risk may be greater in neuromuscular the cervix (the neck of the uterus) possibly causing loss of sensation, diseases, such as spinal muscular atro- dilates so that the baby has room to increased weakness or even paralysis. phy. However, notes Briemberg, “It’s leave the uterus during the second (See “Achieving All Her Goals,” above.) still an extremely rare complication.” stage, when the baby is pushed out. Because of increased pressure and She cautions that low back pain affects The first stage is entirely the result

9 of smooth muscle uterine contrac- expel the baby. However, the mother’s tions, which are involuntary. Women voluntary efforts, by contracting her with neuromuscular diseases (with the abdominal muscles, add force in push- exception of myotonic dystrophy) gen- ing the baby out in a timely manner. erally don’t have any special problems “It’s more difficult to push when the with this stage of labor. pushing stage comes, if you don’t have However, almost all women with much strength to begin with,” says neuromuscular diseases, (including Briemberg. “In women who have pro- those with myotonic dystrophy) have longed labors, having some voluntary voluntary muscle weakness and have muscle strength to push could help.” some difficulties with the second stage That doesn’t necessarily mean of labor. women with neuromuscular disease The uterus continues to contract have prolonged or difficult labors or Stacy Wiparina’s uterus expanded to the side because during the second stage, helping to that operative interventions will be of her spinal curvature.

Worth the was 27. The pregnancy was normal — in fact her rash even Effort improved — but when her water broke and labor failed to progress, she had to have an emergency Caesarean. After the Vickie Jahaske, 46 birth, her dermatomyositis flared again. She went back on Tucson, Ariz. methotrexate and also began receiving intravenous infusions dermatomyositis of immunoglobulins (another immunosuppressive treatment) every three months for years. “I never regained the amount of ickie Jahaske had health I had before the pregnancy,” she says. always dreamed V Her health declined even further during her second preg- of having children, but nancy, when she was 33. “This one was difficult. My doctor that dream almost died told me I was giving him gray hair.” with her diagnosis of Jahaske developed high blood pressure, diabetes, a dermatomyositis at Vickie Jahaske and her second baby deficiency of blood-clotting cells and , all probably age 23. related to her anti-inflammatory and immunosuppressant Her symptoms began with weakness and pain in her legs medications. She also developed calcinosis, hard lumps of and arms, and a rash on her face that she thought was caused calcium under her skin, caused by her dermatomyositis, and by allergies. She had just gotten married, and, she recalls, “I the disease-related rash on her back and face spread. tried to ignore my symptoms until I was unable to hold up my Jahaske gave birth vaginally to a healthy girl, but within toothbrush.” days, she began to lose her eyesight. Her vision grew so Unlike many with this disease, Jahaske received a correct blurry and dark she could hardly see the baby while nursing. diagnosis right away, and began treatment with the anti- Her high blood pressure had caused macular , or swell- inflammatory medication prednisone and the immunosup- ing in her eyes. “Once again, the doctors could not predict if I pressant methotrexate. Even so, her symptoms worsened to would recover or not.” the point where she needed a feeding tube to eat. “I remem- Jahaske slowly recovered, and her vision returned to nor- ber asking the therapist, ‘Will I ever swallow again?,’ and she mal, but she never went back to work after her second child. didn’t know the answer,” she says. Her energy level dropped, and she continues to have high Jahaske fell into a deep depression that was only allevi- blood pressure, diabetes and the painful symptoms of derma- ated when her prednisone dose was reduced. She recovered tomyositis. The red rash on her back is as big and hard as a somewhat and went back to work, in the legal department at dinner plate. She wears caps, bandannas, and wigs to cover Motorola. the rash and her few wisps of hair. “I made an agreement with my doctor that if I could stay Although her pregnancies apparently worsened her fragile off the methotrexate for six months, he would allow me to get health, Jahaske said she is grateful to be able to have chil- pregnant.” dren, for her husband’s unwavering support, and for the help Jahaske’s first child, a healthy , was born when she she’s received from MDA.

10 needed, but it does put women with but they may not work as well,” says The Spine and Spinal Cord these disorders at increased risk for Pressman. “Any time you’ve oper- needing them. ated on the spine, there can be scar- “As far as the actual labor and ring, and so getting the medication to skull delivery are concerned, most of the spread properly is difficult. If the space force is generated by the uterus, which between the spinal elements is nar- is smooth muscle,” Pressman says. rowed because of a change in diameter spinal cord “The uterus is quite capable of expel- of the spine, then it can be hard to get ling a baby with no effort at all on the the anesthetic in as well.” back mother’s part. So, even though we The same barriers apply to spinal encourage women to push, they don’t or epidural anesthesia. The difference vertebrae always need to push. Sometimes that in these is in the exact placement of additional effort is helpful, but much of the anesthesia-delivering catheter (see the time, it’s not needed.” However, she illustration, at right). notes, if “it’s a very snug fit,” or if the On the other hand, general anesthe- front uterus itself is not functioning properly, sia (inhaled anesthesia), which is an physicians may intervene. alternative to epidural or spinal anes- thesia for C-section deliveries, poses Pain management other hazards for some women with Spinal abnormalities or the effects neuromuscular disease. of spinal surgery can make regional Women with central core disease, anesthesia, such as spinal or epidural for example, are at very high risk for a blocks, difficult. These types of anes- severe adverse reaction called “malig- thesia may not work as well in patients nant hyperthermia,” when given certain with significant spinal abnormalities inhaled anesthetics. It’s very important or who have had instruments such as that the obstetric team know about this metal rods inserted. risk beforehand, so they can use alter- “It’s not necessarily contraindi- native anesthetic agents. cated to get these types of anesthesia, And, once again, the woman with spinal anesthesia

epidural Good Advice from Women Who’ve Been There anesthesia Women with neuromuscular disease who’ve gone through pregnancy — and the medical experts who care for them — offer this advice:

• Choose a physician who is knowledgeable, prepared and enthusiastic about helping you have a child. If your doctor is unsympathetic or unsupportive, find another one. cauda equina (“horse’s tail”) • Ensure communication among all members of your medical team — neurologist, obstetrician, anesthesiologist, doctor, pediatrician, etc. All must be

aware of your health status and prepared for the possibility of special complications. Spinal curvatures and the spinal fusion procedures sometimes used to treat them can interfere with the • As far in advance of the big day as possible, decide with your doctor where and effectiveness of spinal or epidural anesthesia. The medication-delivering catheter for spinal anesthesia how you will give birth. Make sure the hospital has a neonatal intensive care unit is usually placed a little higher and penetrates a little that can handle potential complications. more deeply than the catheter to deliver epidural anesthesia. • Arrange for help once you come home, to avoid overwork and injury. One way to easily mobilize a network of family and friends is myMuscleTeam (see www.mda. org/mymuscleteam), MDA’s care coordination website, which can help you (or a caregiver) recruit and schedule willing volunteers.

11 The Nurse Called By the time of her second pregnancy, in the summer and it ‘Fred’s ataxia’ fall of 2004, Bax had begun using a walking stick. (“They’re so Beth Bax, 41 much cooler than canes,” she reports.) She had extra visits with Altadena, Calif. her neurologist at the University of California-Los Angeles, was Friedreich’s ataxia able to exercise, and maintained good circulation and stable health. Doctors induced the birth, Bax had epidural anesthesia, ike many young moth- and daughter Charlotte came out fine. Lers with (and without) FA again complicated matters after the second baby was neuromuscular disease, born, Bax says. “I did not carry her at all. I put her in a stroller Beth Bax discovered that just to move from room to room at my house. When she was pregnancy and childbirth 3-and-a-half months old, I was leaning down to pick up a baby can be a piece of cake sock off the floor, and I fell.” compared to caring for a Bax couldn’t get up. She’d broken her leg and torn her newborn. knee ligament, necessitating wearing a long leg cast for several Bax, a 41-year-old Beth Bax and her daughter months. “It was very difficult,” she says. “My FA made my engineer, received a diagnosis balance terrible, and now I had to balance on one leg.” She of Friedreich’s ataxia (FA) in December 1999, at age 30. She’d couldn’t drive, get in the shower without help, or walk down been married two months before. Her speech was slurred and the steps to leave the house. She began using a wheelchair full something was “off” with her balance — “I looked a little drunk time. probably,” she says — but she was not yet using a cane. “Eventually, everything was fine but it took a while. We got a Bax gave birth to her first child in December 2001. The full-time , we ramped the steps, and I learned to carry the pregnancy was uneventful; her obstetrician researched FA and baby on my lap as I moved forward with my free hand and my didn’t think it would affect the birth. one good leg. We made adjustments and survived, but I never Bax had epidural anesthesia, and the birth went fine, other went back to walking. The muscles for standing and walking than the inappropriate behavior of the attending nurse. “I men- had atrophied, and I never wanted to be in a position where I tioned to her that I had FA, and she freaked out and ordered might break a leg and be helpless again.” a baby warmer and extra nurses,” Bax said. “I didn’t want to Bax believes that having children probably sped up the calmly explain that I was not giving birth to the elephant baby course of her FA, but she has no regrets. Rather than thinking while the nurse was telling everyone I had Fred’s ataxia. She about symptoms and disease progression, “I spend a lot of never did get the name right.” time thinking about laundry, what we can eat for dinner, getting While FA didn’t have a big effect on Bax’s pregnancy or homework done, getting the house clean, which school my kids birth experience, it definitely affected her confidence as a new should go to, etc. I don’t have time to think about FA a lot. If I mother. “My husband ended up always carrying her because I focused on all the problems I have, I think my FA symptoms needed my hands to grab the walls,” Bax says. “I played with would be more pronounced and I would be more depressed her on beds and couches and didn’t carry her much at all.” about it.”

myotonic dystrophy is at high risk of an maybe to not dose quite as heavily as on her own without difficulty. adverse reaction (though not necessar- they would in a woman who didn’t have However, women with very weak ily malignant hyperthermia) to general myotonic dystrophy,” Briemberg says. respiratory muscles, such as someone anesthesia and, in her case, also to the If a woman needs general anesthesia with spinal muscular atrophy or uncon- pain-killing medications that are some- during a surgical delivery, she’s gener- trolled myasthenia gravis, may have times given intravenously during labor. ally “intubated,” meaning the surgical great difficulty resuming normal res- “The big concern is for the anesthe- team puts a tube down her trachea, and pirations after having been intubated, siologist and obstetrician to be aware a ventilator breathes for her during the even for a short time. that they might be a little bit more surgery. In the average person, the tube Fearing this complication, some sensitive to these intravenous medica- can be removed almost immediately women have opted for an unusual way tions that are given during labor and after the delivery, and she can breathe to manage pain relief during a C-section

12 might not be able to ambulate and carry on your routine to tolerate.” activities, but you gain 20 or 30 percent more weight over the course of the Pregnancy pregnancy, you might not be able to and disease continue those sorts of things. You also progression change your center of gravity, so you “I think the use different muscles to support and big thing is balance yourself, and your weakness that, almost as might become more evident.” a rule, you have to expect that Teamwork makes the you’re going to difference get a little bit weaker during Coordination and communication the pregnancy among the pregnant woman, her Having a neuromuscular disease can pose special anesthesia-related risks. and, unfortu- neurologist and a team experienced — local anesthesia. (See “Achieving All nately, that you’re probably not going in high-risk obstetrics (such as can Her Goals,” page 9.) to bounce back after the delivery,” be found at most major medical cen- David Colombo, who delivered Stacy Briemberg says. “Why they get weaker, ters) are essential to a good outcome, Wiparina’s babies by C-section, used I don’t think we know. It doesn’t happen experts agree. In addition, meeting with local anesthesia both times. “We have to everyone, but it certainly does hap- a genetic counselor can help couples a whole protocol that involves 100 cc pen to a significant number, so I think assess the risk of passing a genetic of lidocaine,” Colombo says. “I numb they have to be prepared for that.” disorder to a child. Carrier testing and the skin, and then we make our inci- Even if weakness doesn’t increase prenatal diagnosis are available for sion. Then you go into the fascia [layer permanently, the pregnant woman with many diseases. (See “The Pain and of tissue just under the skin], and you a neuromuscular disease is almost Promise of Prenatal & Newborn Genetic incise that, and then you numb the certain to experience a temporary Diagnosis” in the July 2007 Quest.) peritoneum [deeper layer of tissue] ratcheting up of her disability level, “Care that is well coordinated over the uterus. They don’t feel it when says Pressman. “Pregnancy is a time among services is safe care, and you cut into the uterus; there’s no sen- in your life when you’re gaining more care that is done in isolation can be sation there. Actually, people tolerate it weight than you would normally gain in less safe,” Pressman says. “It’s really very well. If you take your time and do a short period of time,” she notes. “So, important that the different care provid- it right, it’s just the same as a spinal. if you have enough muscle strength ers communicate with one another and Nobody really complains. And you don’t have to worry about intubation.” Eva Pressman, however, isn’t as sure about using local anesthesia for a C-section. “I’ve seen it done a couple of times,” she says. “You can numb the skin and the fascial layers very effective- ly, but you can’t numb the peritoneum very well. Once you get into the abdomi- nal cavity, you get pretty uncomfortable. That being said, I worked with an older obstetrician 20 years ago who had three C-sections herself, all under local anes- thesia, because that’s what she wanted. It would not be my recommendation, but if you get the right sort of person, you can do some things that other people Coordination among members of the team makes care safer.

13 Stages of Labor

cervix starting to cervix fully baby moves dilate (open) dilates down and out

During the first stage of labor, the cervix (neck of the uterus) dilates. This stage involves the uterine muscle, During the second stage of labor, the uterus contin- which is involuntary. This type of muscle, also known as “smooth” muscle, has normal function in most ues to contract, but it’s now aided by the mother’s neuromuscular diseases. An important exception is myotonic dystrophy, in which uterine and other smooth voluntary muscle efforts to push the baby out. muscle function can be impaired. Voluntary muscles in the abdomen can be weak in neuromuscular disease, interfering with the expulsion of the baby and sometimes leading to an assisted vaginal or a Caesarean delivery. that the patient tells the same things Worth it to different providers. I’ve had patients who have come to me and who’ve sort “My experience is that of downplayed their illness. Then I get most people feel it was records from their neurologist, and it still worthwhile having turns out they’ve had many more com- the pregnancy,” says plications than they’ve been willing to Briemberg. In fact, she share with me.” says, it’s important for Pressman recommends that, ideally, doctors to “be realistic,” women with a neuromuscular disorder while at the same time not have a consultation with a physician causing women to worry with expertise in complicated pregnan- too much. cies before becoming pregnant. “Once “We’re all so anxious you’re pregnant,” she notes, “there are when we’re pregnant, Beth Bax says having children probably sped up the course of her fewer options.” about everything,” she disease, but she has no regrets. Briemberg adds, “It’s important to says, “and I really try more have a pre-delivery anesthetic consult, than anything to be reassuring. For most in case you need general anesthesia.” of these women, it’s not going to have If anything, she says, women with a huge impact on their disease. They’re neuromuscular diseases “end up being going to have all the trials and tribula- safer than women that don’t have a tions of being a , but for the most neuromuscular disease,” if they have part, the disease isn’t a huge additional a preoperative anesthetic consult, factor.” q because “everybody’s very in tune to all the issues and knows what agents can and can’t be used.”

14 A Turn of Fate But ALS began to take its toll. Worsham’s leg strength and balance were compromised, and worsened as the baby Erin Brady Worsham, 51 got heavier. She began wearing shoes to support her ankles Nashville, Tenn. and had braces made, which she still wears, to address her amyotrophic lateral foot drop. She started walking with a cane. sclerosis (ALS) She also had two or three instances of choking. “The first time it happened was very scary, because it was so unex- rin Brady Worsham pected,” she says. “Instead of being able to just clear my Etried to get pregnant throat, my throat completely closed up and I couldn’t breathe for six years, with no luck. in or out at all. At first I panicked, but then, instinctively, I She had accepted that she forced myself to relax and my throat relaxed too. From then was never going to be a on, I was very conscious of my chewing and swallowing.” mother. Then, in a turn of For the birth, Worsham arranged for an anesthesiologist fate worthy of a novel, she to give her an epidural, but she didn’t need it. She described got pregnant the day after she received a diagnosis of amyo- the of her son Daniel as follows: trophic lateral sclerosis (ALS). “Dr. Van saw on the ultrasound that Daniel was turned Worsham was 36 at the time. She had been having face up. He warned us that I would be facing a C-section trouble with foot drop (an inability to lift the front of the foot) [Caeasarean delivery] if the baby didn’t turn. My nurse friend and weakness in her lower legs, so she went to a neurologist and [my husband] Curry turned me as far as they could on who did a series of tests. On Sept. 7, 1994, Worsham and my stomach. They gave me a “whiff” of stadol [a narcotic her husband met with the doctor for the verdict. painkiller]. It didn’t take away the pain, but it allowed me to “His nurse put her arm around my shoulders and walked rest between contractions. A doctor friend of ours dropped me to his office,” Worsham recalls. “I knew I was in big by to see how I was doing. She made the mistake of holding trouble.” my hand. I never let her go. When she learned of her pregnancy, Worsham was “Dr. Van returned when I was fully dilated. [The cervix, or delighted. Her neurologist, however, was not, commenting, entrance to the uterus, must be fully dilated before the baby “Don’t you know you could be gone in a year?” Worsham can pass through.] The ultrasound confirmed Daniel had went in search of a doctor who would be more supportive, indeed turned. Dr. Van commented that there was ‘a lot of and found Nashville obstetrician John Vanhooydonk. power’ in the room. With my nurse friend pushing on one leg “I remember Dr. Van saying, ‘It doesn’t matter if you live and Curry pushing on the other and my doctor friend push- five days, five months or five years, you’re going to be happy ing on my back, we brought Daniel home.” you had this child.’” Now 51, Worsham has outlived all the doctors’ predic- Worsham felt great throughout her pregnancy: “Food tions, and Daniel, at 15, is a strapping young man. Worsham tasted incredible. I was not alone. My thoughts were of life, advises women with ALS who want children, “Don’t wait! not death.” The earlier in the disease, the better.”

15 Surprise tor put her on blood sugar medicine, which made her so Pregnancies light-headed she couldn’t walk. She went through another plasmapheresis treatment while pregnant. Jeanne Lawrence, 34 Ten months and one week after having her first child, Quincy, Ill. Lawrence had her second, a healthy girl. She again gave birth dermatomyositis vaginally, without complications, although the baby weighed almost nine-and-a-half pounds. “The doctor looked at me fter all the treatments and said, ‘You are planning on waiting this time [before get- Ashe’d undergone ting pregnant], aren’t you?’” since learning at age 14 Lawrence had a in 2005, then underwent her that she has dermato- third and final pregnancy later that year. “I was miserable,” myositis (DM), Jeanne she says. She couldn’t sleep, experienced some spotting, and Lawrence was sure she’d her hormone and blood sugar levels were way out of whack. never have kids. She’d “I had to go to the hospital in Springfield for ultrasounds taken large doses of prednisone, immunoglobulins, and every two weeks, then every week. At 36 weeks, I measured Imuran (azathioprine), among other things. That’s why she like 50 weeks. The doctors were worried I had so much fluid was surprised and scared to learn, shortly after marrying that I wouldn’t be able to deliver the placenta.” at age 25, that she was pregnant. At the time, she also was Lawrence’s last child, a boy, was born in 2006 via undergoing plasmapheresis, a treatment that filters unwanted Caesarean section. He weighed more than 11 pounds and antibodies from the blood that’s sometimes used to treat required treatments prior to delivery to help his lungs autoimmune diseases like DM. mature, but otherwise was healthy. “I didn’t know if the plasmapheresis would hurt the Lawrence says it’s difficult to care for her children. She baby,” she recalls. “But the doctor read up on it and said, ‘Go suffers flare-ups of dermatomyositis and tires easily. “I ahead.’” sometimes have to crawl up or slide down stairs, and I can’t Lawrence had high blood sugar and pre-term labor, but stand extremes of temperature. I have to stay inside a lot.” was able to give birth vaginally. Her first son came into the She encourages women with muscle disease who are world in 2001, five-and-a-half weeks premature and with contemplating pregnancy to make sure they have good family pneumonia, but is healthy now. When Lawrence took him in support. “My mom was there for me through every pregnan- for his six-week checkup, she was shocked to learn she was cy,” says Lawrence, who is now divorced. “I am very blessed pregnant again. to have both her and my children in my life.” The second pregnancy went much like the first. Her doc-

16 Medication Complications for Pregnant Women with Neuromuscular Disease Medication or Treatment Prescribed For Potential Problems During Pregnancy

• No studies have been conducted with this drug in pregnant women. alglucosidase alfa acid maltase deficiency • In short-term studies in a mouse model, this drug did not impair fertility (Myozyme) (Pompe disease) or harm a growing fetus. • No long-term studies in animals have been performed.

• Can affect fertility in both men and women. • Animal studies have revealed evidence that use of azathioprine can cause malformations in a fetus. • Has been shown to cross the placenta and cause harm to the fetus, with dermatomyositis some data showing an increased risk of intrauterine growth retardation, azathioprine inclusion-body myositis premature birth and low birth weights. (Azasan, Imuran) polymyositis • Anecdotal evidence exists from cases in which the drug was used dur- myasthenia gravis ing pregnancy by women with conditions such as transplant or systemic lupus. Congenital anomalies were observed in children born to these women, including: missing or extra fingers or toes; congenital heart disease; umbilical hernia; deformities in the legs, feet, penis and skull. Some babies had problems producing bone marrow.

• No adequate and well-controlled studies in pregnant women have been conducted. • Female rats treated with baclofen experienced an increase in incidence amyotrophic lateral baclofen of ovarian cysts. sclerosis (Kemstro, Lioresal) • Animal studies in rats have revealed an increased incidence of birth defects. • Abnormalities in the bones of the forelimbs and hindlimbs were observed in fetuses of rabbits treated with the drug.

• Limited experience with the use of clonazepam during pregnancy has amyotrophic lateral clonazepam been reported, but an increased risk of birth defects has been associated sclerosis (Klonopin) with use of all known anticonvulsant agents, such as clonazepam. • Breathing and feeding problems in newborns have been observed.

congenital MD • Studies in animals have shown that corticosteroids cause birth defects. corticosteroids distal MD • Studies on correlation of birth defects with corticosteroids have not been prednisone tablets Duchenne MD done in . (Deltasone) Emery-Dreifuss MD • Anecdotal evidence reported by medical professionals suggests a lack of intravenous facioscapulohumeral MD abnormalities in children whose mothers were treated with typical doses methylprednisolone limb-girdle MD of prednisone and methylprednisolone throughout pregnancy. sodium succinate myotonic MD • Clinical experience has revealed that corticosteroid use in pregnant (Solu-Medrol) oculopharyngeal MD women may correlate with premature rupture of amniotic membranes myasthenia gravis and low birth weights in infants.

17 Medication Complications for Pregnant Women with Neuromuscular Disease Medication or Treatment Prescribed For Potential Problems During Pregnancy • May affect egg production in women and sperm production in men. Use cyclophosphamide of cyclophosphamide by the father prior to conception has been associ- (Cytoxan, Cytoxan dermatomyositis ated with birth defects. Lyophilized, Neosar) inclusion-body myositis • Normal pregnancies and fetal development have been observed in polymyositis women who used this drug during pregnancy, but it also has resulted in severe and defects in some instances.

• data have revealed evidence of premature birth and low in babies born to women who took this drug during pregnancy, cyclosporine dermatomyositis but the drug does not appear to cause birth defects. (Gengraf, Neoral, inclusion-body myositis • In data gleaned from 15 studies, analysis showed that the overall preva- Sandimmune) polymyositis lence of major birth defects in babies born to women taking this drug did not vary substantially from that reported in the general population.

Used preoperatively to pre- dantrolene vent or halt the • The safety of this drug in women during or prior to pregnancy has not (Dantrium) development of malignant been established. hyperthermia

• Data from human pregnancy studies are not available. entanercept dermatomyositis • Developmental toxicity studies performed in rats and rabbits at doses (Enbrel) inclusion-body myositis ranging from 60 to 100-fold higher than the human dose have revealed polymyositis no evidence of harm to the fetus.

• It is not known whether Neurontin is harmful to an unborn baby, but amyotrophic lateral some observations have indicated that gabapentin does cross the pla- gabapentin sclerosis centa and accumulate in the fetus. (Gabarone, Neurontin) • In animal studies, the drug proved toxic to the fetus, causing delayed formation of several bones and accumulation of urine in the kidneys.

• There are no controlled data in human pregnancy. However, the findings of one study have shown preliminary safety support for the use of this dermatomyositis drug during pregnancy. hydroxychloroquine sulfate inclusion-body myositis • Animal studies have revealed that the drug passes rapidly across the (Plaquenil, Quineprox) polymyositis placenta, accumulates selectively in the eyes of the fetus and still is present in those tissues five months after elimination from the rest of the body.

infusion of mixed • IVIg has been shown to cross the placenta after 32 weeks gestation, but dermatomyositis immunoglobulins successful outcomes in human pregnancy have been observed. inclusion-body myositis (Gammar, Gammagard, • Noted risks for the use of IVIg in pregnancy are blockage of a blood ves- polymyositis Sandoglobulin, others) sel by a blood clot, and kidney inflammation myasthenia gravis • Animal studies have not been reported.

18 Medication Complications for Pregnant Women with Neuromuscular Disease Medication or Treatment Prescribed For Potential Problems During Pregnancy • Studies in pregnant women who were treated with magnesium sulfate by injection showed no risk of increased fetal abnormalities. • Magnesium sulfate often is used to treat severe high blood pressure amyotrophic lateral during pregnancy. magnesium sclerosis • It should not be prescribed to pregnant women with myasthenia gravis, as it is known to exacerbate the disease. • Although the drug has a depressant effect on the central nervous sys- tem, evidence has shown it does not adversely affect the mother, fetus or newborn when used to treat high blood pressure and fluid retention (pre-eclampsia) or the convulsions or coma that may follow (eclampsia).

• May cause birth defects and fetal and newborn death if taken during methotrexate dermatomyositis pregnancy. (Rheumatrex, Folex, inclusion-body myositis • Pregnancy should be avoided if either partner is receiving this drug. Men Mexate) polymyositis should wait three months after therapy, and women should wait at least one ovulatory cycle before trying to conceive a child.

• There are no controlled data in human pregnancy, but the drug has been associated with increased risk of first trimester pregnancy loss and dermatomyositis increased risk of birth defects. mycophenolate mofetil inclusion-body myositis • National Transplantation Pregnancy Registry (NTPR) data on mycophe- (CellCept) polymyositis nolate mofetil-exposed pregnancies in transplant patients showed that myasthenia gravis 45 percent of pregnancies ended in spontaneous . Of live-born babies, 22 percent had birth defects.

• There are no controlled data in human pregnancy. • Animal studies have not shown this drug to cause birth defects, but there has been evidence both in animals and humans of spontaneous nabumetone abortion. (Relafen) • It’s advised that this drug not be used in the third trimester, as it may affect the fetus’ cardiovascular system, and also prolong labor and delivery.

neostigmine • There are no adequate studies of the use of this drug in pregnant (Prostigmin, Prostigmin myasthenia gravis women. Bromide)

dermatomyositis Plasmapheresis inclusion-body myositis Note: plasmapheresis • May alter blood volume in the mother and cause low blood pressure, polymyositis is a procedure, not a which can endanger both mother and fetus. myasthenia gravis medication Lambert-Eaton syndrome

19 Medication Complications for Pregnant Women with Neuromuscular Disease Medication or Treatment Prescribed For Potential Problems During Pregnancy • There are no controlled data on the use of this drug in human preg- nancy. amyotrophic lateral • There is evidence that men being treated with this drug have an pregabalin sclerosis increased risk of contributing to birth defects in offspring. (Lyrica) • Animal studies have shown that pregbalin crosses the placenta and has resulted in increased incidences of malformations, slowed growth, ner- vous and reproduction system impairment, decreased fetal body weights and fetal death.

• No information on the safety of this drug during pregnancy in humans has been established. pyridostigmine bromide • Drugs that are biochemically similar to pyridostigmine bromide have not myasthenia gravis (Mestinon) been reported to cause birth defects; however, temporary muscle weak- ness has occurred in some newborns whose mothers took such drugs during pregnancy.

• There are no controlled data on use of this drug in human pregnancy. • Animal studies have revealed evidence that the drug causes fetal malfor- amyotrophic lateral mations. Quinine sclerosis • It’s known that quinine crosses the placenta and accumulates in fetal (Qualaquin) blood. • In a study of women with a form of malaria, birth defects were observed in 21 infants exposed to high doses of quinine during the first trimester.

• There are no adequate and well-controlled studies in pregnant women. • At higher-than-normal doses, riluzole impaired fertility when adminis- amyotrophic lateral tered to male and female rats. riluzole sclerosis • In studies in rats given the drug prior to and during mating and preg- (Rilutek) nancy, riluzole caused decreased implantations, increased intrauterine death and viability and growth of offspring. • Administration of higher-than-normal doses of the drug to pregnant rats and rabbits proved toxic to both fetus and mother.

20 Medication Complications for Pregnant Women with Neuromuscular Disease Medication or Treatment Prescribed For Potential Problems During Pregnancy • Can trigger a malignant hyperthermia reaction in people with central core disease, myasthenia gravis and some muscular dystrophies. (Malignant hyperthermia is a potentially fatal abnormal response to inhaled anesthetics and certain muscle relaxants. It causes uncontrolled muscle contractions, accelerated metabolism, high fever, and, if not May be of particular treated, death.) concern in: • Can affect heart rhythm in people with spinal muscular atrophy or ALS. amyotrophic lateral • Can cause prolonged weakness after surgery in those with periodic succinylcholine sclerosis paralysis. (Anectine) central core disease • Can make muscles rigid, complicating some medical procedures, in Note: This myasthenia gravis people with myotonic muscular dystrophy or myotonia congenita. is a “depolarizing” myotonia congenita • It is not known whether succinylcholine adversely affects reproductive relaxant often used myotonic muscular capacity, or if it causes fetal harm when administered to a pregnant with anesthesia. dystrophy and some woman. No information on the safety of this drug during pregnancy in other MDs humans has been established. periodic paralysis • Animal reproduction studies have not been conducted with succinylcho- spinal muscular line chloride. atrophy • A higher number of women who are pregnant, versus those who are not, may have increased sensitivity to the drug (prolonged duration of slowing of breathing). • Small amounts of the drug are known to cross the placenta. Depending on the dose given the mother during delivery, a newborn may experi- ence slowed breathing and lack of muscle tone.

• In a study of 100 pregnancies in 84 mothers, there were 68 live births in which the most common complications to the newborns were tempo- rary low oxygen levels, raised potassium levels in the blood and kidney problems. dermatomyositis tacrolimus • Some animal studies have revealed an increased incidence of abortion, inclusion-body myositis (Prograf) resorption of the fetus, and malformations. The drug also was found to polymyositis be toxic to the mother. • It’s known that Tacrolimus crosses the placenta. • The drug has been used successfully during pregnancy in a limited number of cases, although raised serum potassium levels and kidney problems in newborns have been reported.

• There are no controlled data on use of this drug in human pregnancy. tizanidine amyotrophic lateral • Animal studies have shown evidence of increased length of gestation, (Zanaflex) sclerosis increased loss of pups, and impaired development.

ubiquinone (Co-Q10, Coenzyme Q10, • Information regarding the safety of ubiquinone in pregnancy is lacking, Idebenone, LiQsorb, Liquid Friedreich’s ataxia but its use is not recommended. Co-Q10, NutraDrops, • Animal studies have revealed no harmful effects. QuinZyme, others)

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