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Proximal Myotonic Myopathy



Proximal Myotonic Myopathy Causes


Proximal myotonic mycopathy is caused by the mutation in the gene ZNF9. It becomes more severe when passed on the the next generations and eventually becomes an autosomal dominant disease.


Proximal Myotonic Myopathy Definition


Proximal myotonic myopathy is a inherited muscular disorder that results to muscle weakness, frequent muscle contractions, cataracts, infertility, balding, and cardiac problems. The disorder was only discovered in 2001. It is also known as myotonic dystrophy type 2.


Proximal Myotonic Myopathy Symptoms and Signs


The disease is less common than myotonic dystrophy, however it also exhibits relatively the same symptoms. Proximal myotonic mycopathy exhibits extreme muscle weakness, lethargy, heart abnormalities and clouding of the lens of the eye.


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