Multicore Myopathy

What is Multicore myopathy?

Multicore myopathy (MM) or Multi Minicore myopathy causes muscle fibre degeneration. Most cases of MM are inherited, but some are sporadic (the mutation only occurs in the affected person; it was not inherited and will not be passed onto children).

There are four types of MM:

  • Classic form
  • Progressive form with hand involvement
  • Antenatal form with arthrogryposis multiplex congenita
  • Ophthalmoplegic form

MM affects both males and females. Close to half of MM cases are caused by a defective gene in one of two proteins: Selenprotein N1 (SEPN1) and Ryanodine receptor 1 (RYR1).

The main symptoms of MM are generalized weakness and muscle atrophy. Other symptoms depend on the type of MM. In some people, the disorder may remain stable for a long period of time, while some may experience progressive muscle weakness.

Treatment may include:

 

Fact Sheet on Multicore Myopathy

 

Useful Links

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