Another question - ataxia/hypotonia

Hi I have posted here a few months ago. I just had a few more questions. My son is now 22 months, he has truncial ataxia (mild), moderate hypotonia, and tremor of his hands and head. He also blinks funny possibly blepharospasm?He also cannot chew at all and is either choking about three times per day or aspirating, this we are yet to see the doc about. Anyway he has appeared to get a little more stumbly lately, especially when I hold his hand and try to help him ,he falls constantly, falling in front of me, when walking on his own he appears to do a lot better, but still tends to trip a lot and esspecially when turning. He also recently has started having moe of the choking/aspirating sessions, i feel that he is aspirating but I cannot rule out the gagging/choking thing as he does so that a lot anyway. No unusual eye movements or anything, he does not have trouble getting up from the floor, he appears cognitively normal, a little over smily and over friendly and has frequent temper outburts, but he is nearly 2!! I have noted that he has a slightly unusual shape to his body, he has a long trunk, his upper arms are reasonably narrow, but his thighs are really muscular on the top outside. I did go through the worry of MD and similar when he was younger, then I got over that, but since our neuro and geneticist havent comeup with anything yet I was wondering if his thighs being muscular (very) could be a clue to anything? His MRI was normal, they suggested a possibility of an SCA or Glycostatin, carbohydrate thing, but are waiting to test until older. Thanks!! Cindy

[CCF-Neuro-M.D.-CS]

Your sons case is very complex, and it is impossible for me to provide an accurate clinical diagnosis. The intermittent facial movements and choking episodes could be related to a movement disorder, such as blepharospasm or dystonia. Other disorders which may have similar symtpoms include SCA's and metabolic disorders. It sounds like your doctors are checking for these possibilities. You should inform your doctors about the choking spells. If you are questioning your prior evaluation, a second opinion with another pediatric neurologist would be appropriate. Sorry I could not be more of more help.