What it is
Duchenne muscular dystrophy is a severe inherited muscle disease caused by mutations in the dystrophin (DMD) gene. Without working dystrophin, muscle is gradually damaged and replaced, causing progressive weakness from early childhood.
Signs and symptoms
Calf muscle pseudohypertrophy
Enlarged-looking calves (calf pseudohypertrophy) are characteristic; the muscle is being replaced by fat and fibrous tissue rather than being strong.
Elevated circulating creatine kinase activity
A markedly raised blood level of creatine kinase (CK), an enzyme released from damaged muscle, is an early clue and is often very high in this condition.
Loss of ambulation
Walking ability is gradually lost, on average in the early teens, after which a wheelchair is needed.
Dilated cardiomyopathy
The heart muscle is also affected over time, leading to a dilated cardiomyopathy that needs regular monitoring.
X-linked recessive inheritance
Duchenne muscular dystrophy is inherited in an X-linked recessive pattern, which is why it predominantly affects boys, with the gene change carried on the X chromosome.
Muscle weakness
Progressive weakness of the muscles closest to the trunk (hips, thighs, shoulders) usually appears in early childhood and is the core feature.
Gowers sign
A 'Gowers sign', using the hands to push up the legs when rising from the floor, is a classic early sign of the hip and thigh weakness.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Glucocorticoids
Glucocorticoids (corticosteroids such as prednisone or deflazacort) are the mainstay of treatment and can slow the loss of muscle strength, though they carry significant side effects.
Used to help with: Duchenne muscular dystrophy.
“Long-term glucocorticoid therapy is the mainstay of treatment for individuals with Duchenne muscular dystrophy (DMD) but confers significant side effects.”
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How to read the evidence labels
Where this comes from
This guide is built from 2 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.