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Congenital Muscular Dystrophy

Background

Congenital Muscular Dystrophies are an heterogenous group of disorders which show at birth or within the first six months of life.

Forms of Congenital Muscular Dystrophy that occur in western countries are:

  • The merosin deficient form (also know as MDC1A)
  • The merosin positive form with rigidity (stiffness) of the spine (also know as RSMD1)
  • One form with significant distal joint laxity (also known as Ullrich variant)
  • One form with large muscles (also known as MDC1C)
  • The muscle-eye brain disease (also known as MEB)
  • The Walker-Warburg variant with severe eye and brain involvement

It should be noted that congenital muscular dystrophy is not the same disorder as congenital myopathy.

What are the symptoms? View What are the symptoms?

Medical text written May 2000 by Professor F Muntoni. Last updated December 2004 by Professor F Muntoni, Professor and Consultant in Paediatric Neurology, Hammersmith Hospital, Neuromuscular Centre, London, UK.

 

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