Proximal Myotonic Myopathy

Below you will find more information about Proximal Myotonic Myopathy from Medigest. If you believe that you are suffering from any of the symptoms of Proximal Myotonic Myopathy it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Proximal Myotonic Myopathy and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Proximal Myotonic Myopathy comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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.

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.

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