A Guide for Patients and Families
What is... Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular FSHD usually begins before age dystrophy (FSHD) is a genetic mus- 20, but it can begin as early as cle disorder in which the muscles of infancy and as late as the 50s. the face, shoulder blades, and upper arms are among the most affected. In most people with FSHD, the disease progresses very slowly, Researchers have described two and most people affected by the types of facioscapulohumeral muscular disease have a normal lifespan. dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types typically have Initial symptoms include weakness the same signs and symptoms and are and atrophy of the muscles around distinguished by their genetic cause. the eyes and mouth, shoulders, upper arms, and lower legs. Later, weakness FSHD1 is caused by changes in a region can spread to abdominal muscles of chromosome 4 called D4Z4 that result and sometimes hip muscles. in the abnormal activation of a gene called DUX4. Mutations in a gene called SMCHD1 There is no cure for FSHD, but medi- are the underlying cause of FSHD2. cations and therapy can help manage some symptoms and potentially FSHD has an estimated prevalence slow the course of the disease. of 1 in 20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent are FSHD2.
FSHD rarely affects the heart or respiratory system. It doesn’t cause learning disabilities or other cognitive impairments, nor does it affect sen- sation, ability to control the bladder and bowels, or sexual function. What are the symptoms of FSHD? How is FSHD treated? FSHD mainly affects skeletal muscles, along with vision and hearing. Rarely, the heart or lungs may be affected.
No treatment currently exists Standard therapies, including to halt or reverse the effects of amplification, are appropriate FSHD, but there are treatments treatments for hearing loss. Sensory perception Skeleton and muscle and devices that can help alleviate • Abnormalities of the retina • Muscle weakness Ventilatory support such as • Exposure keratitis • Muscle atrophy many of the symptoms. bi-level positive airway pressure • Mild hearing loss • Pain Physical therapy may help (BiPAP) may be necessary for those • Inflammation who experience hypoventilation. • Contractures to retain muscle strength and Heart • Scoliosis function, enhance mobility, • EMG abnormality • Lordosis and help prevent falls. Use of lubricants can Occupational and speech therapy help prevent drying of Respiratory system can help maintain daily living skills. the eyes in individuals • Hypoventilation whose muscle weakness causes them to sleep Low-intensity aerobic exer- with their eyes partially cise may be recommended open. In some cases, to help maintain mobility. use of an eye shield or Any exercise regimen What should I know about FSHD? patching the eyes during should be initiated under sleep may be necessary 1 The age of disease onset, progres- 6 Weakness in the muscles of the lower 11 Abnormalities involving the the guidance of a physician to alleviate dryness. sion, and severity of FSHD vary legs can lead to a condition called light-sensitive tissue at the and customized to accom- Anti-inflammatory drugs a great deal. foot drop, which affects walking and back of the eye (the retina) increases the risk of falls. may occur. In addition, eye modate the individual’s known as nonsteroidal muscle weakness can keep disease symptoms, age, anti-inflammatories, 2 Usually, symptoms develop during the eyes from closing and cardiovascular status. or NSAIDs, are often the teen years, with most people 7 When muscle weakness is prolonged, completely during the night, noticing some problems by age it can lead to freezing of joints in causing dryness and injury. prescribed to improve 20, although weakness in some one position, called a contracture. comfort and mobility. muscles can begin as early as In FSHD, contractures are most infancy and as late as the 50s. likely to occur in the ankles. 12 Inflammation of muscles — an attack by certain types of cells of the immune system — Massage or warm, moist heat 3 8 Weakness involving the facial Muscular weakness in the hips and occurs in some muscular dys- may help with the discomfort muscles or shoulders is usually pelvis can make it difficult to climb trophies and can be extensive associated with FSHD. the first symptom, with facial stairs or walk long distances. in some people with FSHD. muscle weakness often making it difficult to drink from a straw, Ankle/foot orthoses can improve 9 When the muscles surrounding the whistle, or smile. 13 mobility and prevent falls in spine weaken, the column is pulled In most people with FSHD, individuals with foot drop. out of alignment. The misalignment weakness may be asymmetri- 4 Weakness in muscles around the often takes the form of lordosis, where cal, differing between the left eyes can prevent the eyes from the spine curves in to an excessive and right sides of the body. Devices such as back supports, closing fully while a person is degree and the stomach sticks out. It corsets, girdles, and special bras asleep, which can lead to dry also can take the form of scoliosis, in for people with FSHD can help eyes and other eye problems. which the spine curves to the side, like 14 Pain in FSHD may also result compensate for weakening muscles an S. The scoliosis that sometimes from the way weakened occurs in FSHD usually isn’t severe. muscles pull bony structures, in the upper and lower back. 5 Weak shoulder muscles tend to such as the spine and shoulder make the shoulder blades (scapu- blades, out of alignment. Surgical fixationof the scapula 10 lae) protrude from the back, a Additional signs and symptoms to the chest wall may improve common sign known as scapular of FSHD can include mild high-tone winging. Weakness in the muscles hearing loss. When FSHD starts 15 Rarely, facioscapulohumeral range of motion in the arms. of the shoulders and upper arms in childhood, loss of hearing may muscular dystrophy may affect Please talk to your medical can make it difficult to raise the be more profound than in the heart (cardiac) muscle or provider to obtain more information arms over the head or throw a ball. adult-onset FSHD. muscles needed for breathing. on these treatments. MDA Glossary
Atrophy Mutation A decrease in the size and A flaw in the DNA code mass of muscle tissue Scapula Contracture Shoulder bone, or shoulder blade A shortening of muscles or tendons around joints that can limit mobility Scapular winging When the muscles that hold the Exposure keratitis shoulder blades in place weaken, the Dryness of the cornea caused by an shoulder blades stick out and rise up inability to effectively close the eyelids toward the neck as they move; the protruding bone resembles a wing Hypoventilation When breathing is too shallow or slow Scoliosis to meet the body’s needs, resulting in A curvature in the spine that occurs an increase in carbon dioxide levels when weakened muscles are unable to hold the spine straight Lordosis An abnormal exaggerated curve in the lower (lumbar) region of the spine
Muscular dystrophy A term that refers to a number of diseases that cause progressive loss of muscle mass, resulting in weakness and, sometimes, loss of mobility
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66-0020 March 2019