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Muscular Dystrophies, Pediatric

Jessica Rose Nance, MS, MD Reviewed 10/2018
 


BASICS

DESCRIPTION

  • Muscular dystrophies (MDs) are a heterogeneous group of disorders characterized by a slow degeneration of muscle with consequent weakness and contracture deformity. Cardiac muscle ca...

DIAGNOSIS

HISTORY

  • Neonatal hypotonia, feeding difficulty (CMD)

  • Gross motor delay/regression

  • Global developmental delay (syndromic CMD) or learning disorders (DMD)

  • Exercise intolerance/cramping

  • Myalgia (BMD...

TREATMENT

GENERAL MEASURES

  • Supportive care (e.g., routine immunizations)

  • Psychological and/or school support

  • Night splinting (DMD, LGMD) to prevent progression of joint contractures

  • Physiotherapy: passive...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Respiratory surveillance

    • Baseline pulmonary evaluation (DMD, CMD) with periodic pulmonary function test (PFT) surveillance, incentive spirometry,...

ADDITIONAL READING

  • American Academy of Pediatrics Section on Cardiology and Cardiac Surgery. Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediat...

CODES

ICD9

  • 359.1 Hereditary progressive muscular dystrophy

  • 359.0 Congenital hereditary muscular dystrophy

  • 359.21 Myotonic muscular dystrophy

ICD10

  • G71.0 Muscular dystrophy

  • G71.2 Congenital myopathies

SNOMED

  • 7...

FAQ

  • Q: What test should be ordered first in a boy with suspected DMD?

  • A: After confirmation that CK is elevated, 1st-line testing is DMD duplication/deletion analysis (detects 70% cases). If negative, ...

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