Duchenne muscular dystrophy (DMD): female carriers

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Duchenne muscular dystrophy (DMD): female carriers. Asymptomatic, Muscle weakness: mild or moderate, Muscle pain. Fully referenced neurology checklist.

Phenotypes

  • Asymptomatic
  • Muscle weakness: mild or moderate
  • Muscle pain
  • Cramps
  • X-linked dilated cardiomyopathy (XLDCM)
  • Raised creatinine kinase (CK)

Blood tests

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Molecular analysis

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Management

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References

  1. American Academy of Pediatrics Section on Cardiology and Cardiac Surgery. Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Paediatrics 2005; 116:1569-1573.
  2. Soltanzadeh P, Friez MJ, Dunn D, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010; 20:499-504.
  3. Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999; 353:2116–2119.
  4. Ceulemans BP, Storm K, Reyniers E, Jr, Callewaert L, Martin JJ. Muscle pain as the only presenting symptom in a girl with dystrophinopathy. Pediatr Neurol 2008; 38:64–66.
  5. Manzur AY, Kinali M, Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008; 93:986-990.
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