Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is the most common and severe progressive muscular dystrophy to affect children.
The Mass General for Children Orthopaedics Service provides clinical care to infants, children and adolescents, from birth to college age, for the entire spectrum of musculoskeletal problems.
What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy is characterized by progressive muscle weakness, and a noticeable loss of muscle tissue.
What are the risk factors for Duchenne muscular dystrophy?
Inherited or spontaneously mutated genes.
What causes Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, meaning that it affects boys and is inherited from the mother. Two-thirds of cases have a positive family history, whereas one third have no family history and are due to spontaneous mutations.
Duchenne muscular dystrophy is caused by a loss-of-function DNA mutation leading to defects in normal dystrophin protein that is essential to muscle stability and growth.
What are the symptoms for Duchenne muscular dystrophy?
Symptoms include progressive muscle weakness.
How is Duchenne muscular dystrophy diagnosed?
- Clinical examination for signs of muscle weakness and coordination problems
- Muscle biopsy to examine the structure of the muscle
- Electromyography test to test muscle and/or nerve function
- Blood DNA testing for a definitive diagnosis
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