Duchenne Muscular Dystrophy Jared Rubenstein

What Causes DMD? Caused by a mutation in a gene, called the DMD gene that can be inherited in families in an X-linked recessive fashion Often occurs in people from families without a known family history of the condition.

History Named for the pioneering 19th century French neurologist Guillaume Benjamin Amand Duchenne Duchenne was the first to do a biopsy to obtain tissue from a living patient for microscopic examination

Diagnosis Clinical diagnosis made when patient has progressive symmetrical muscle weakness. Muscle biopsy look for abnormal levels of dystrophin in the muscle. Genetic testing on a blood sample for changes in the DMD gene

Treatment There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to maximize quality of life Activity is encouraged. Inactivity (such as bedrest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability to care for yourself.

Effects Age of onset: 2 to 6 years Symptoms: General and severe muscle weakness and wasting, beginning from the upper arms, upper legs and pelvis. Weakness eventually progresses to all voluntary muscles. Calf muscles are generally hypertrophic (bigger than usual) Rate of Progression: Fast Expected Lifespan: as much as 25 years, survival past the twenties is very rare

Works Cited ne+muscular+dystrophy ne+muscular+dystrophy ne+muscular+dystrophy ne+muscular+dystrophy i?book=gnd&part=duchennemusculardystrop hy i?book=gnd&part=duchennemusculardystrop hy