GENETIC DISORDERS EXPERT FORUM
Hereditary Disorder

Hereditary Disorder

For years, I've had pain & fatigue, & symptoms of twitches from my torso down,  pain in my right arm & hand, numb feet while running, uncontrollable toe-spreading, horrible nighttime nerve pain that makes it nearly impossible to sleep, & feelings of "flu-like" fatigue during the day,  Four years ago went to our doc, who thought I might have MS & was sent to a neurologist.  Had nerve conduction test, blood work-up, MRI of neck and brain, etc. Brisk reflexes in knees, limited reflexes in ankles, normal nerve conduction, normal MRI.  Neurologist, unable to determine cause, diagnosed idiopathic peripheral neuropathy & started me on Gabapentin.  Over the last few years that dosage has increased slightly, to a total of 1500 mg./night which enables me to sleep decently about 5 out of 7 nights a week, but doesn't deal with continued daytime symptoms.  Exercise regularly because I don't want to give in.  However, sometimes I  feel like I'm running myself into the ground

I'm the fifth in family to have these types of symptoms. Grandma has had  symptoms since her  twenties but was told it was just post-polio syndrome. She's walked with a cane since her forties & been in a wheelchair since her sixties.  Dad, in his early thirties began suffering same symptoms.  Doctors chalked it up to a different issue--degenerative discs. At 58, he spends more time resting than upright; walks with a cane some of the time. Both grandma and dad are thin/average weight and were physically active prior to symptoms becoming debilitating. My grandma, now 85, has Alzheimer's. My father's sisters were diagnosed with Fibromyalgia because of similar symptoms.  

At the time of my first neurological visit, I never considered my issues as hereditary since everyone else's symptoms had been diagnosed as "something else".

Are there hereditary disorders with these symptoms?  The MRI doesn't suggest MS.  Hereditary neuropathy has been suggested but our family members have no foot/leg deformities. Thoughts?
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It sounds like your family has been through a lot. There are genetic disorders associated with peripheral neuropathy. We recommend that you and your family meet with a medical geneticist for evaluation. A medical geneticist can review your history and test results, your family history, perform a physical exam, as well as offer and order any appropriate genetic testing. A medical geneticist can be found at the American College of Medical Genetics website. In some cases, neurologists have medical geneticists that they work with.
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Thanks for the info.  
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