Duchenne muscular dystrophy
Pronunciation: doo-SHEN muscular dystrophy
X-linked recessive muscular dystrophy caused by dystrophin gene mutations, characterized by progressive muscle weakness beginning in early childhood.
Full Definition
Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy, caused by mutations in the dystrophin gene on the X chromosome. The condition primarily affects boys, with onset typically between ages 2-5 years, presenting as delayed motor milestones, proximal muscle weakness, and pseudohypertrophy of calves. Progressive muscle degeneration leads to loss of ambulation by adolescence, followed by respiratory and cardiac complications. Diagnosis involves elevated creatine kinase levels, muscle biopsy showing dystrophin absence, and genetic testing. Treatment focuses on corticosteroids, physical therapy, and multidisciplinary supportive care.
Usage
Usage note: Capitalize 'Duchenne' as it is an eponym; DMD abbreviation is acceptable in clinical contexts.
In Context
- "Genetic counseling is essential for families affected by Duchenne muscular dystrophy due to its X-linked inheritance pattern." — Patient education material
- "The boy's Duchenne muscular dystrophy was diagnosed following markedly elevated CK levels and positive genetic testing." — Medical case study