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Re: hypotonia with no aparent cause

Posted By CCF MD mdf on September 19, 1998 at 16:01:52:

In Reply to: hypotonia with no aparent cause posted by pam  jacob on August 13, 1998 at 12:38:08:

: Hello,
: I have a 5 year old that has weak muscles (low tone) he is also developmentaly delayed in scattered areas.  It is the same with his physical abilities.  He walked at two and started scooting only months before, speach came with that (aside from a few single words).  We have had 2 MRI's (one at 3 months another at 2 years) and have been told they are nonrevealing. He had an EMG at three months and it was normal. He has had blood tests for I don't know what all and we still don't know whats wrong.  He has been "clinically" diagnosed with atypical CP . What is that? I can't find anything on it. No one hear in Albuq. can figure him out, our resources here are VERY limited.  If this was a form of CP wouldn't damage show on the MRI? Wouldn't ther have been a cause? Is there another test available, anywhere, to check the lining of the brain? What should I do next, I feel so frustrated not knowing the cause, or the long term affect because we don't know what it is that causes this in him.  I had a normal pregnancy and delivery and he was not sick. He was floppy from day one.  
: Any direction, input answers would be apreciated.
: Thank you so much, I did post in another section I'm not sure what all is conected here I hope I'm not being repetitive.
One thing you did not mention: has your child been evaluated by a geneticist?  There are a number of genetic disorders that can lead to hypotonia, some of them would also include some degree of developmental delays.  At least that might rule things out, and give you some of the answers you seek.
Sorry it took so long to respond to your post. Since our pediatric neurology specialists have not answered yet, I'll try to give you an answer.
Hypotonia is an abnormally decreased muscle tone. Any baby who is "floppy" immediately raises suspicion of some problem with the nervous system which, for our purposes, includes brain, spinal cord, nerve roots, nerves, nerve-muscle connection, and muscles.
The distinction is made between "central" and "peripheral" hypotonia. In central hypotonia, the problem arises because of damage or dysfunction of the brain and/or spinal cord. Peripheral hypotonia arises when the muscles or nerves aren't working right.
Diseases like myotonic dystrophy are disorders of muscles, though that may be an oversmplification. Peripheral hypotonia may produce abnormalities on EMG testing. Central hypotonia should have a normal EMG.
Generally, cerebral palsy results in gradual development of spasticity, which is hypERtonia, or too much muscle tone.
Genetic and metabolic disorders affecting the brain can produce hypotonia and developmental delay. The general rule about most genetic diseases is that individually they are rare even though in the aggregate they are relatively common.
The specific diagnosis requires evaluation by an expert. He/she must know about all the different types of diseases that produce developmental delay and hypotonia. Other clinical clues from the history and physical exam can narrow the search. At some point, the doctor must make a "short list" of the possible diagnoses and come up with a set of tests (if possible) to target the diagnosis. Clearly, the more expert the doctor, the less "fishing" he/she will have to do.
If you are able to travel, look up pediatric genetics experts or pediatric neurologists. I would highly recommend major academic centers. You mentioned sending material to Dallas: look up Children's Medical Center (UT Southwestern). Or, you can try Denver or Phoenix or LA or San Francisco. Of course, you're welcome at Cleveland Clinic, too.
I hope this helps with your difficult problem. CCF MD mdf.

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