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What Is Becker Muscular Dystrophy?

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What Is Becker Muscular Dystrophy? A Guide for Patients and Families What is... Becker Muscular Dystrophy Becker muscular dystrophy (BMD) Because the DMD gene is located on is a genetic disorder characterized by the X chromosome, BMD primarily progressive weakness and degeneration of affects males, while females typically the skeletal muscles that control movement. are carriers. Some females can Heart muscle also is commonly affected, experience varying ranges of physical making cardiac problems a prominent symptoms, including muscle weakness feature of the disease. and cramps, and are therefore called manifesting carriers. The incidence (rate of occurrence of new cases) of BMD has been estimated to be BMD typically is inherited through the between 1 in 18,000 and 1 in 30,000 live mother; however, in some of cases, it male births. occurs spontaneously in people who do not have a family history of the disease. BMD is classified as adystrophinopathy , a muscle disease that results from the There is no cure for BMD, but medications, deficiency of a protein called dystrophin. assistive devices, and therapy can help manage some symptoms and improve In both Duchenne muscular dystrophy quality of life. (DMD) and BMD, a mutation in the DMD gene interferes with production of the dystrophin protein, a critical component in the formation and mainte- nance of healthy muscle. A BMD-causing mutation typically leads to an abnormal version of the dystrophin protein that is only partially functional. However, lack of fully functional dystrophin protein in muscle cells causes them to be fragile and become damaged with use. What are the signs and symptoms of BMD? BMD is a multi-systemic condition, affecting many parts of the body and resulting in atrophy of the skeletal, cardiac (heart), and pulmonary (lung) muscles. Nervous system • Developmental delay • Motor delay Skeleton and muscle • Muscle weakness • Reduced stamina Cognition • Fatigue • Gait abnormalities • Learning disability • Loss of balance • Walking on the • Behavioral deficits • Impaired coordination tips of toes • Muscle cramps • Contractures Gastrointestinal • Difficulty walking • Pseudohypertrophy • Dysphagia • Difficulty climbing stairs • Lordosis • Constipation • Exercise intolerance • Scoliosis • Reflux • Gastroparesis Heart • Cardiomyopathy Lungs • Congestive heart failure • Breathing difficulties • Arrhythmias • Respiratory infections • Swelling in the feet and lower • Sleep apnea legs What should I know about BMD? 1 BMD is closely related to Duchenne 4 In some cases, the first sign of 7 Other symptoms of BMD can muscular dystrophy (DMD), which is disease may be a heart condition include cognitive problems, fatigue, caused by different mutations in the called dilated cardiomyopathy. loss of balance and coordination, same gene. Because disease pro- This form of heart disease enlarges and breathing problems. A small gression and treatment plans differ and weakens the heart muscle, percentage of boys with the between the two disorders, a BMD preventing it from pumping blood disease have some degree of diagnosis should be confirmed with efficiently. Dilated cardiomyopathy learning disability, including genetic testing. progresses rapidly and can be problems in three general areas: life threatening. attention, verbal learning and memory, and emotional interaction. 2 A defining feature of BMD is a high degree of variability in symptoms— 5 Skeletal muscle weakness often including onset, severity, and cor- begins in the legs and pelvic area 8 The diaphragm and other muscles and slowly progresses to the relation between symptoms —and involved in breathing typically rate of disease progression from one muscles of the shoulders, neck, weaken, making the lungs less individual to another. Although both arms, and respiratory system. Over effective at moving air in and out. skeletal and cardiac (heart) muscle time, affected individuals begin to typically are affected, there is no have difficulty walking, running, Signs of poor respiratory function apparent association between the hopping, and jumping, and they can include headaches, difficulty two. So, a boy could experience any may have frequent falls. Although concentrating or staying awake, range of skeletal muscle weakness, loss of muscle mass is common, and nightmares. Weakened from mild to severe, paired with any the calves may become enlarged. respiratory muscles also make level of cardiac involvement; the it difficult to cough, leading to character of one does not correlate increased risk of serious with the other. 6 Some individuals with BMD will respiratory infection. have problems getting up from the floor and may use a distinctive 3 Muscle weakness can begin at any method known as Gower’s 9 Medical and scientific advances are time from childhood into the early maneuver or Gower’s sign to helping to improve quality of life, 20s, but it usually becomes apparent “walk” their hands up their and people with BMD often survive between the ages of 5 and 15 years. thighs in order to stand up. into their 40s and beyond. How is BMD treated? Over-the-counter pain Educational and psychological relievers may be used to interventions can help with treat muscle pain or cramps. learning disabilities. Wheelchairs or scooters Occupational therapy can may be used to help help improve daily living maintain mobility. and work skills. Braces, also called orthoses, support the ankle and foot or Corticosteroids (such as may extend up over the knee. prednisone and Emflaza) Ankle-foot orthoses (AFOs) may be prescribed in BMD are sometimes prescribed for to help preserve muscle night wear to keep the foot from strength and function, pointing downward and keep to prevent scoliosis, and the Achilles tendon stretched to prolong the time that while a child is sleeping. people with BMD can walk. It’s thought that they Physical therapy through work, at least in part, by exercise helps to restore reducing inflammation. and maintain muscle However, corticosteroids strength and function. Corrective orthopedic also cause unwanted side Stretching helps to surgery, including spine- effects such as increased maintain range of straightening surgery, appetite, weight gain, motion. may help make sitting, loss of bone mass, sleeping, and breathing and cataracts. more comfortable. Speech therapy can help with swallowing problems. Assisted ventilation can help treat respiratory muscle weakness. Treatment with angiotensin converting enzyme (ACE) inhibitors and beta blockers may be used to slow the course of cardiac muscle deterioration in BMD. Cardiac evaluations are recommended beginning at around 10 years old, or when symptoms first begin, and be repeated at least every two years. Please talk to your medical provider to obtain more information on these treatments. MDA Glossary Atrophy Lordosis A decrease in the size and mass of Posture characterized by an inward muscle tissue curving of the lower back Cardiomyopathy Muscular dystrophy A condition in which the heart muscle A term that refers to a number of is weakened, making it harder for the diseases that cause progressive loss heart to pump blood to the body of muscle mass, resulting in weakness and sometimes, loss of mobility Contracture A shortening of muscles or tendons Mutation around joints that can limit mobility A flaw in the DNA code Corticosteroid Pseudohypertrophy One of a group of steroid hormones A condition in which muscles become that has been shown to dampen the enlarged with deposits of fat and inflammatory response in damaged fibrous tissue muscle Scoliosis Dysphagia An abnormal sideways curvature Difficulty swallowing in the spine that occurs when weakened muscles are unable to Gastroparesis hold the spine straight A condition that affects the ability of the stomach to empty its contents into the small intestine, even though there is no blockage; also known as delayed gastric emptying Gower’s maneuver A person’s use of their hands and arms to “walk” up their own body in order to rise from a squatting position; indicates weakness of the muscles in the hips and legs To learn more about BMD, visit mda.org or contact the MDA National Resource Center at 833-ASK-MDA1 (275-6321). Designated a Top-Rated Charity by the American Institute of Philanthropy, MDA is the first nonprofit to receive a Lifetime Achievement Award from the American Medical Association for “significant and lasting contributions to the mda.org • 1-833-ASK-MDA1 health and welfare of humanity.” facebook.com/MDAOrg @MDAorg 66-0015 May 2019.
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