Duchenne muscular dystrophy (DMD): female carriers

Evidence-based neurology checklist on duchenne muscular dystrophy (dmd): female carriers: Phenotypes Asymptomatic Muscle weakness: mild or moderate Muscle pain Cramps X-linked dilated cardiomyopathy (XLDCM) Raised creatinine kinase (CK) Blood tests Molecular analysis Management

Phenotypes

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

Blood tests

Molecular analysis

Management

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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