Re: My son has a neuropathy, do I need to be concerned about my other children?

Posted By Chris on June 20, 1999 at 10:04:24
My youngest son (age 3)has severe hypotonia (global, not just the extremities) and joint hyperflexibility. He is very delayed in motor skills, he is also delayed in other areas but not as severely. Last winter, he had an EMG which showed demyelination of the nerves. We are awaiting test results to get a definitive diagnosis. I also have 3 other sons. Two of them are also showing motor delays, just not as serious as the youngest one. My oldest (he's 7) can walk, but not run, he can't jump straight up in the air or hop on one foot, he has poor balance and falls alot. He didn't appear to be delayed until age 5, but it has really caught up with him. My other son who is 4 is beginning to follow the same path as the oldest. Neither one of them really appear to be regressing, their development has just really plateaued and they both (particularly the 7yo) fall down A LOT. The 7yo is receiving PT,OT and speech. His PT has been wanting him to have a neuro eval done but we have decided to wait until we receive the diagnosis for the youngest. His PT doesn't seem to think that they could all have the same condition because there is such a variance between the severity. I was wondering if this is true, or if it is possible that my younger son just has a more severe form which manifested at a younger age. There is no history of neurological disease in my husband's or my families but my son's ped. seems to think that this is probably a genetic condition. Should I pursue a neurological evaluation with my older sons?

[CCF Neuro[P] MD RPS]

Posted By CCF Neuro[P] MD, RPS on June 21, 1999 at 14:45:46
Dear Becky:
I am sorry to hear about your sons.  What sort of testing has been performed on your son's?  What has your pediatric neurologist hinted at the etiology of your son's weakness?  Unfortunately, there are a great many disorders that can produce hypotonia, muscle weakness, developemental delay, etc.  It really sounds like the disease all your son's have is genetic in nature.  Some of the genetic myopathies, for instance, have a variety of expressions and can have different severities within the same family.  
Many of the tests that are performed for hypotonia, muscle weakness, etc are the usual tests for general neurological problems so would be performed anyway.  Most likely, given what your pediatric neurologist knows about your youngest son's history, he/she has a thought about what is the problem.  Therefore, these initial tests would be highly directed anyway.  You should find out if the problem is identical in all your sons.  It has the flavor of being a congenital muscular dystrophy, but I know too little of the history to tell for sure.
Yes, I would pursue a neurological exam for all your children.  Until you know for sure that there isn't a genetic condition, it may be important in early treatment for the elder sons.  However, make sure the neurologist knows about the work up of your youngest son.  We would be happy to see your family if you are in the Cleveland area.  
Sincerely,
CCF Neuro[P] MD  










Follow Ups:


My son has a neuropathy, do I need to be concerned about my other children? Chris 6/21/1999
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Re: My son has a neuropathy, do I need to be concerned about my other children? CCF Neuro[P] MD, RPS 6/21/1999
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My son has a neuropathy, do I need to be concerned about my other children? Chris 6/22/1999
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Re: My son has a neuropathy, do I need to be concerned about my other children? CCF Neuro[P] MD, RPS 6/22/1999
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