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46 l Nursing2015 l Volume 45, Number 10 www.Nursing2015.com

By Tamara L. Bellomo, MSN, RN-BC, and Lucille Cichminski, MSN, RN

A MOTHER OF THREE teenage children, Mrs. is one of the most common neuromuscular dis- S, 49, presented to her healthcare provider eases in the world. This rapidly progressive, fatal with bilateral leg twitching and weakness, dif- neuromuscular disease involves the degeneration ficulty swallowing, and fatigue that’s worsened and death of the upper and lower motor neu- over the past few weeks. While she was on her rons.1 This article discusses the diagnosis and daily morning walk, she tripped and fell. She treatment of ALS and how nurses can help their experienced a small laceration to her leg, patients deal with the difficult diagnosis and find prompting her visit to the healthcare facility. the resources they and their families need. Her husband said that she’d had periods of slurred speech over the past few months as Who’s affected? well. She was alert and oriented, and her vital An estimated 20,000 to 30,000 Americans are signs were all within normal limits. living with ALS, and about 5,000 new cases After an exam, her healthcare provider are diagnosed each year in the United States.2 referred her to a neurologist who ordered This disease affects people of all ethnic, socio- magnetic resonance imaging (MRI), an electro- economic, and racial backgrounds.2,3 ALS most HOTOTAKE

/ P myogram, and a full bloodwork panel. After commonly strikes people between ages 40 and multiple visits to rule out other causes, Mrs. S 60, but it can also develop in younger and old- ERNER

W received the devastating diagnosis of amyotrophic er people. The incidence is slightly higher in IKE 3 M lateral sclerosis (ALS). men than women. AND ALS, also known as Lou Gehrig disease after The average survival after diagnosis is 3 to AROL

C the famous baseball player who had the disease, 5 years, but the disease progresses more slowly

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Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. in some cases.3 The ALS Association Besides diagnosis at a younger age, 10 years earlier than average onset of reports that about 30% of people other variables for longer survival ALS and it’s associated with a shorter with ALS live 5 years, 10% to 20% include male gender and limb onset survival.7 survive more than 10 years, and 5% versus bulbar onset.6 (See Under- Roughly one-third of all familial live for 20 years.4 However, even standing the pathophysiology.) cases result from a defect in a gene longer-term survival is possible known as chromosome 9 open reading when the disease manifests at a Puzzling etiology frame 72, or C9orf72, a gene whose younger age. An example is the To date, no single cause of ALS has function is still unclear. This gene well-known theoretical physicist been identified. In 90% to 95% of mutation is also implicated in a small Stephen Hawking. Dr. Hawking was ALS cases, the disease seems to occur percentage of nonfamilial cases. diagnosed with the disease at age 21 spontaneously.2 Patients with this Another 20% of familial cases result and has been living with it for over sporadic form of the disease have no from mutations in the gene that 50 years. Although confined to a family history of ALS and their fam- encodes the enzyme copper-zinc wheelchair and now able to speak ily members aren’t at increased risk superoxide dismutase type 1 (SOD1) only through a computer system, he for the disease.2 gene.2 Genetic testing is available for set forth his theory of relativity and Roughly 5% to 10% of all ALS anyone with indications of ALS and a quantum mechanics, worked for cases are inherited. Familial ALS family history of ALS. Although ge- over 30 years as a full professor of (FALS) usually results from an auto- netic testing isn’t a routine part of the mathematics, and established the somal dominant inheritance pattern diagnostic evaluation in ALS, it can Stephen Hawking Centre for Theo- that requires only one parent to carry help determine the cause of FALS in retical Cosmology (Cambridge, the gene responsible for the disease. a family. Testing is the most useful U.K.), all while living with ALS.5 The age of onset for FALS is about when a person in the family has

Understanding the pathophysiology19

ALS leads to the progressive de- Normal nerve cell and muscle ALS-affected nerve cell and muscle generation of the motor neurons that supply voluntary muscles. It’s characterized by the deterioration of pyramidal neurons in the motor cortex (upper motor neurons) and motor neurons in the brainstem and central spinal cord (lower motor neurons). This progressive Cell body degeneration of the motor neu- Cell body rons eventually leads to their Nucleus Nucleus death. When the motor neurons die, the ability of the brain to initi- Dendrites Dendrites ate and control muscle movement is lost and muscles begin to waste. This is called amyotrophy. The loss Axon of nerve fibers in the lateral col- Axon umns of the spinal cord causes a rigidity, or sclerosis, to the central nervous system tissue; thus the term lateral sclerosis. However, the total sensory system and the Muscle Atrophied muscle regulatory methods of control and coordination of movements aren’t affected. The neurons for ocular movement, the parasympathetic neurons in the sacral spinal cord, and the intellect all remain intact.

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Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. already been diagnosed with the disease. About 50% of those with FALS New directions for ALS research will have an identified mutation. If a Current ALS research topics include the following: mutation has been identified, asymp- • Understanding the mechanisms that selectively trigger motor neurons to tomatic biological family members degenerate in ALS and to develop effective strategies to halt the processes can be tested to determine if they leading to cell death. inherited the genetic mutation. This • Developing biomarkers for ALS that could aid in diagnosis, serve as markers for is called predictive testing.8 disease progression, or correlate with therapeutic targets. Other possible causes under in- • Testing druglike compounds, gene therapy approaches, antibodies, and cell-based vestigation include smoking, viral therapies.14 infection, autoimmune disease, and • Exploring the impact of cell transplantation to manage signs and symptoms.20,21 4 environmental exposure to toxins. • Studying the potential association between cigarette smoking and ALS.22 Studies are being performed of military personnel who were deployed during the 1991 Gulf war. A recent Bladder and bowel function is usu- evaluating weakness, muscle wast- study demonstrated that those veter- ally spared because the spinal nerves ing, and sensory symptoms. They ans were more likely to develop ALS that control these muscles aren’t af- typically reveal combined features compared with military personnel fected.11,12 Although about 15% of of acute and chronic denervation who weren’t in the region.2,4 patients with ALS may develop fron- in ALS.13 Sensory and nerve conduc- totemporal dementia, cognitive function studies can determine the ability Signs and symptoms tion is usually spared in most of of the nerves to send electrical sig- The initial signs and symptoms of those affected by ALS.12 nals even though the results of these ALS involve a slow, chronic pro- Nearly all patients develop signs studies are most often normal in ALS gression that varies among those and symptoms of respiratory insuf- patients.13 However, in cases of se- affected.9 Eighty percent of patients ficiency that may require mechanical vere atrophic and denervated mus- present with asymmetric limb ventilation. Nurses must ensure that cles, the conduction studies results weakness while 20% have bulbar the risks and benefits of invasive may exhibit reduced amplitude.2,9 onset, presenting with dysarthria ventilation are discussed with pa- Lab testing usually includes serum or dysphagia.10 tients and their families long before and urine protein electrophoresis, The first manifestations of the dis- the time when the decision must be thyroid studies, and 24-hour urine ease depend on the location of the made. Approximately 5% to 10% of heavy metal panel.4,9 Other diagnos- affected neurons and may be so patients select the option of a trache- tic studies include a complete blood slight that the person doesn’t recog- ostomy with permanent mechanical cell count with differential, erythrocyte nize them as a problem.11 The per- ventilation when respiratory com- sedimentation rate, C-reactive pro- 9 son may not seek treatment until promise becomes severe. The most tein, vitamin B12, and folate levels. muscle atrophy and weight loss are common cause of death in ALS is apparent.9 progressive neuromuscular respira- Treatment choices The clinical hallmark of ALS is the tory failure. Other causes of death ALS is progressive and incurable, combination of upper motor neuron include aspiration and infection.10 and patients require multidisci- and lower motor neuron signs and plinary care. To date, the only treat- symptoms.10 Upper motor neuron Diagnosing ALS ment that’s been shown to improve findings of weakness, hyperreflexia, Establishing an ALS diagnosis is a survival time is riluzole.14 A member and spasticity result from degenera- difficult task that can take a long of the benzothiazole class, riluzole is tion of frontal motor neurons. The time because no single test can thought to reduce glutamate-induced lower motor neuron findings of confirm it.2,12 Instead, diagnosis is excitotoxicity.15,16 Riluzole can weakness, atrophy or amyotrophy, usually based on the presenting signs lengthen survival time by several and fasciculations are a direct conse- and symptoms and the exclusion months for some patients and can quence of degeneration of lower mo- of other possible causes.12 Neuroim- also extend the time before the pa- tor neurons in the brainstem and aging including brain CT and MRI tient requires mechanical ventilation. spinal cord.10 is used to rule out disorders that However, this medication can’t re- Bulbar signs and symptoms in- can mimic ALS, such as multiple verse any damage already incurred. clude dysphagia, which increases the sclerosis or a brain tumor.9,12 Elec- The most commonly observed ad- risk of aspiration, and dysarthria.9,11 trodiagnostic studies are helpful in verse reactions include asthenia, www.Nursing2015.com October l Nursing2015 l 49

Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. nausea, vomiting, diarrhea, abdomi- important role in delaying loss of National Institutes of Health, is the nal pain, anorexia, and dizziness. strength, maintaining endurance, leading advocate of biomedical re- Because about 10% of those using preventing complications, reducing search on ALS. The goals of this re- this medication experience liver or controlling pain, and promoting search are to find the cause of ALS, damage, liver function should be functional independence. Patients understand the mechanisms involved monitored frequently.16 can benefit from low-impact aerobic in disease progression, and develop Most other treatments for ALS exercises such as swimming, walk- effective treatments. Investigators are are used to improve patients’ qual- ing, and riding a stationary bicycle, optimistic that these clinical research ity of life and relieve signs and which may help improve cardiovas- studies will eventually lead to more symptoms. The goal of this sup- cular health as they fight fatigue and effective treatments for ALS. (See portive care is to help the patients depression. The goal is to provide New directions for ALS research.) be as mobile, independent, and strategies and equipment that help comfortable as possible. Pharmaco- patients retain independence and Back to the patient... therapy may be indicated to treat ensure their safety while they per- Mrs. S’s healthcare provider started dyspnea, muscle spasm, spasticity, form activities of daily living. her on oral riluzole and referred her sialorrhea (excessive flow of saliva), Speech-language pathologists can to a nutritionist and physical thera- fatigue, pain, depression, dyspha- help patients experiencing dyspha- pist. She’s scheduled for a follow-up gia, constipation, and sleeping gia and dysarthria.17 visit in 2 weeks. Mrs. S and her fam- problems. To maintain nutrition, encourage ily will require extensive education For patients with ALS, physical patients to eat small, frequent meals. about her disease. Besides providing and occupational therapy play an Meals should provide fiber, fluid, emotional and physical support, her and calories with foods that are easy nurse will inform the patient and to swallow. Because choking due to family about available resources in Resources for excess saliva is a concern, always the community and provide educa- patients and keep suction devices nearby.18 tional materials. families Patients may require percutaneous gastrostomy tube placement for nutri- Patient education The following organizations provide tional support.6 Pulmonary support Each patient with ALS is affected in a assistance and support to patients may include noninvasive positive different way, so tailor patient educa- with ALS and their families: pressure ventilation, tracheostomy, tion and subsequent interventions to • ALS Association and mechanical ventilation. 6 meet the patient’s specific needs. www.alsa.org Palliative care should be provided Nurses need to teach patients and • ALS Therapy Development from the time of diagnosis all the way their caregivers the importance of Institute through the bereavement process to adhering to prescribed treatment reg- www.als.net provide support to the patient with imens and to notify the healthcare • fALS Connect ALS, the family, and the caregiving provider should changes occur. Top- https://fals.patientcrossroads.org team. Palliative care isn’t restricted ics to teach include: • Family Caregiver Alliance to end-of-life care but rather focuses • monitoring for changes in respira- www.caregiver.org on relieving suffering throughout tory, swallowing, or speech status • Les Turner ALS Foundation each stage of the disease. Other • providing skin care and preventing www.lesturnerals.org objectives of palliative care include pressure ulcers • MDA (Muscular Dystrophy establishing goals of care that are • making sure the patient’s diet is Association) consistent with the patient’s physical, well balanced www.mda.org psychosocial, emotional, and spiritual • adhering to physical and occupa- • National Alliance for Caregiving values. When the patient’s expected tional therapy regimens www.caregiving.org prognosis reaches 6 months or • monitoring for alterations in bowel • National Family Caregiver Action less, or when goals shift exclusively and bladder patterns Network toward comfort, hospice should be • implementing fall prevention strat- www.caregiveraction.org introduced.6 egies such as removing potential trip • Prize4Life hazards, installing handrails and a www.prize4life.org Current research shower chair in the shower, and • Project A.L.S. The National Institute of Neurologi- utilizing assistive devices such as a www.projectals.org cal Disorders and Stroke, part of the walker or wheelchair when needed.

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Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. Emotional support 6. Galvez-Jimenez N. Symptom-based drugsatfda_docs/label/2009/020599s011s012lbl. and resources management of amyotrophic lateral sclerosis. pdf. 2015. www.uptodate.com. 17. Bansal M, Singhvi I, Rajpurohit R. Amyotrophic Providing emotional support and 7. Wijesekera LC, Leigh PN. Amyotrophic lateral lateral sclerosis: a review. Int J Med Health Res. education to patients and their fami- sclerosis. Orphanet J Rare Dis. 2009;4:3. www. 2015;1(1):1-5. advancejournals.org/journals/ lies throughout the course of the dis- ncbi.nlm.nih.gov/pmc/articles/PMC2656493/. Manuscript/374/Amyotrophic-lateral-sclerosis- 8. ALS Association. Familial amyotrophic lateral A-REVIEW. ease are key nursing interventions. sclerosis (FALS) and genetic testing. 2015. www. 18. ALS of Michigan. ALS treatment. 2009. https:// Communication and active listening alsa.org/about-als/genetic-testing-for-als.html. www.alsofmichigan.org/pdf/resourcemanual/ ALS4_Treatment.pdf. are encouraged. Encourage patients 9. McCormick MJ. Degenerative disorders: ALS and MS. Nursing Made Incredibly Easy! 2010;8(3): 19. Porth CM. Essentials of Pathophysiology: Concepts and their families to use resources 28-36. of Altered Health States. 4th ed. Philadelphia, PA: that will help support them as they 10. Elman LB, McCluskey L. Clinical features of Wolters Kluwer; 2014. amyotrophic lateral sclerosis and other forms of 20. ALS Association. Stem cells. 2015. www.alsa. deal with the challenges of ALS. (See motor neuron disease. 2015. www.uptodate.com. org/research/about-als-research/stem-cells.html. ■ Resources for patients and families.) 11. Hinkle JL, Cheever KH. Brunner and Suddarth’s 21. Muscular Dystrophy Association. Amyotrophic Textbook of Medical-Surgical Nursing. 13th ed. lateral sclerosis. mda.org/disease/amyotrophic- REFERENCES Philadelphia, PA: Wolters Kluwer/Lippincott lateral-sclerosis/research. 1. ALS Association. What is ALS? 2015. www.alsa. Williams and Wilkins; 2014:2070-2072. 22. de Jong SW, Huisman MH, Sutedja NA, et al. org/about-als/what-is-als.html. 12. Davis M, Lou JS. Management of amyotrophic Smoking, alcohol consumption, and the risk of 2. National Institute of Neurological Disorders lateral sclerosis (ALS) by the family nurse amyotrophic lateral sclerosis: a population-based and Stroke. Amyotrophic lateral sclerosis (ALS) practitioner: a timeline for anticipated referrals. study. Am J Epidemiol. 2012;176(3):233-239. aje. fact sheet. 2015. www.ninds.nih.gov/disorders/ J Am Acad Nurse Pract. 2011;23(9):464-472. oxfordjournals.org/content/176/3/233.long. amyotrophiclateralsclerosis/detail_ALS.htm. 13. Elman LB, McCluskey L. Diagnosis of 3. Centers for Disease Control and Prevention. amyotrophic lateral sclerosis and other forms of National Amyotrophic Lateral Sclerosis Registry. motor neuron disease. 2015. www.uptodate.com. Tamara L. Bellomo and Lucille Cichminski are associate professors of nursing at Kingsborough 2014. https://wwwn.cdc.gov/als/whatisals.aspx. 14. ALS Association. How is ALS treated? 2015. www. Community College in Brooklyn, N.Y. 4. ALS Association. Facts you should know. 2015. ninds.nih.gov/disorders/amyotrophiclateralsclerosis/ www.alsa.org/about-als/facts-you-should-know. detail_ALS.htm#266954842. html. 15. Choudry RB, Galvez-Jimene N, Cudkowicz ME. The authors and planners have disclosed no potential 5. Harmon K. How has Stephen Hawking lived Disease modifying treatment of amyotrophic lateral conflicts of interest, financial or otherwise. past 70 with ALS? Scientific American. 2012. www. sclerosis. 2015. www.uptodate.com. americanscientist.org/science/pub/how-has- 16. Rilutek (riluzole) tablets. Bridgewater, NJ: stephen-hawking-lived-to-70-with-als. Sanofi-Aventis; 2008. www.accessdata.fda.gov/ DOI-10.1097/01.NURSE.0000471410.04013.6d

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