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Posted by CCF Neuro MD on April 30, 1997 at 13:57:42:
In Reply to: Proximal myotonic Myopathy posted by Natalie Morse on April 17, 1997 at 09:40:31:
: I have some form of myopathy that is causing severe proximal weakness. Muscle biopsy results were abnormal showing myopathic changes. I have fasiculations, mild pain in my arms, and periodically lose function of my hands. I have problems swallowing at times, have fallen. There are four generations of my family that have had some of these symptoms. Most severe, not being able to stand, cardiac problems etc.. Some family are stiff and have difficulty walking/ standing from a chair by age 60. i am the third generation, and i have children age 17 and 21 who are already showing symptoms, at an earlier age than I did. many of these family members including my children have learning disabilities.
My neurologist has not given me a specific diagnosis. She has seen my brother and daughter, and confirmed we all have the same type of myopathy. Is there anyone in the world doing research re: this type of myopathy. I am concerned about the future for myself and my children. Any treatment options???
Proximal Myotonic Myopathy (PROMM), is a recently described myopathic disorder (recent article in "Neurology" journal in the past few months). It is considered a form of muscular dystrophy which is inherited in an autosomal dominant fashion (that is why each generation of your family has been affected). It is characterized by proximal muscle weakness, myotonia (inability of the muscle to relax), and cataracts. The symptoms generally begin between 20 and 40 years of age and are slowly progressive over time. There have been some reports of cardiac problems in a few patients. Although mental retardation is present in other muscular dystrophies, it is generally absent in PROMM. There is however, changes in the brain seen on MRI. The gene responsible has not yet been found. Currently there is no therapy. I recommend you contacting the Muscular Dystophy Association for information. They will be able to refer you to a specialist in the field who may be doing research on this and may be able to give you more information. The physician may help to confirm what your actual diagnosis is based on your biopsy results,history and examination. Good luck.
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