Duchenne muscular dystrophy (DMD): clinical features

Evidence-based neurology checklist on duchenne muscular dystrophy (dmd): clinical features: Genetics The dystrophin gene is on chromosome Xp21 Out-of-frame mutations occur in 65% of cases These usually cause complete dystrophin deficiency DMD may also result from partial dystrophin deficiency The…

Genetics

  • The dystrophin gene is on chromosome Xp21
  • Out-of-frame mutations occur in 65% of cases
  • These usually cause complete dystrophin deficiency
  • DMD may also result from partial dystrophin deficiency
  • The onset age is usually between 2-5 years

Mobility and gait

Neuromuscular features

Skeletal deformities

Cognitive and psychiatric features

Epilepsy

Cardiorespiratory complications

Gastrointestinal complications

Other systemic complications

Clinical monitoring indices

References

  1. Manzur AY, Kinali M, Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008; 93:986-990.
  2. Manzur AY, Muntoni F. Diagnosis and new treatments in muscular dystrophies. JNNP 2009; 80:706-714.
  3. Patten JP. Neurological Differential Diagnosis. 2nd edition. Springer New York 1996 p316.
  4. Carlson CR, McGaughey SD, Eskuri JM, Stephan CM, Zimmerman MB, Mathews KD. Illness-associated muscle weakness in dystroglycanopathies. Neurology 2017; 89:2374-2380. 
  5. Hendriksen JG, Vles JS. Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder. J Child Neurol 2008; 23:477-481. 
  6. And 14 more. Subscribe to see the full list

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