Neuromuscular diseases

Bethlem Myopathy

Bethlem myopathy is a relatively unknown NMD. It is one of the collagen VI-related myopathies which is included in the BIO-NMD project. Bethlem myopathy is caused by a fault in one of the genes that codes for collagen VI. It can be diagnosed in infancy right through to adulthood as symptoms can be so varied.

The condition is usually inherited via a dominant gene - this means that if a parent has the condition, there is a 50% chance that their child will inherit it. However, sometimes Bethlem myopathy occurs because of a spontaneous mutation and there is no family history of the condition.

Further information about Bethlem myopathy can be found on the Muscular Dystrophy Campaign website.

 




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