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...
Neonatal hypotonia, feeding difficulty (CMD)
Gross motor delay/regression
Global developmental delay (syndromic CMD) or learning disorders (DMD)
Exercise intolerance/cramping
Myalgia (BMD...
Supportive care (e.g., routine immunizations)
Psychological and/or school support
Night splinting (DMD, LGMD) to prevent progression of joint contractures
Physiotherapy: passive...
Respiratory surveillance
Baseline pulmonary evaluation (DMD, CMD) with periodic pulmonary function test (PFT) surveillance, incentive spirometry,...
American Academy of Pediatrics Section on Cardiology and Cardiac Surgery. Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediat...
359.1 Hereditary progressive muscular dystrophy
359.0 Congenital hereditary muscular dystrophy
359.21 Myotonic muscular dystrophy
G71.0 Muscular dystrophy
G71.2 Congenital myopathies
7...
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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