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Semin Neurol 2008; 28(2): 250-259
DOI: 10.1055/s-2008-1062269
© Thieme Medical Publishers

Inherited Myopathies and Muscular Dystrophies

Michael Cardamone1 , Basil T. Darras2 , 3 , Monique M. Ryan1 , 4
  • 1Neurosciences Department, Royal Children's Hospital, Victoria, Australia
  • 2Department of Neurology, Children's Hospital Boston, Boston, Massachusetts
  • 3Harvard Medical School, Boston, Massachusetts
  • 4Murdoch Children's Research Institute, Victoria, Australia
Further Information

Publication History

Publication Date:
19 March 2008 (online)

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ABSTRACT

The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and defined by distinctive histochemical or ultrastructural changes on muscle biopsy. The muscular dystrophies, in contrast, are diseases of muscle membrane or supporting proteins, which are generally characterized by pathological evidence of ongoing muscle degeneration and regeneration. Diagnosis of these disorders is contingent on a targeted history and examination, biochemical and neurophysiological assessment, muscle biopsy, and genetic testing. Treatment is focused on symptomatic management and rehabilitation, and monitoring for disease complications.

KEYWORDS

Myopathy - muscular dystrophy - pediatric

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Monique M RyanM. Med. B.S. F.R.A.C.P. 

Neurosciences Department, Royal Children's Hospital

Flemington Road, Parkville 3052, Victoria, Australia

Email: monique.ryan@rch.org.au