Reply Listing

Current topic: Diagnosis

Current Question:
	I'm wondering if my five year old should get the gene test?
My five year old son has has hyptonia/muscle weakness since birth - mostly noted in his hip girdle area. It wasn't really apparent until he got to the walking age because he met sitting and crawling pretty much on time - he pulled up around 12.5 months and started walking at 16 months. His gait was abnormal though - he had lordosis and knee hyperextension. He still uses a modified gowers manueuver. He gets up from a squat with and without hands(depending on how tired he is). At five years, he runs slowly, jumps(not very high),hops, and still has difficulty with stairs- he can do it without hands but very hard and really does need the support for it (especially ascending). He still does them one step at a time and with his left side. He also has some oral motor and jaw weakness(since birth) and can now chew and eat pretty well but it's taken him lots of therapy to get there. Does this sound like SMA III? He has a normal CPK, myopathic EMG, and a biopsy that showed neurogenic changes and some myopathic changes - so they don't know what he has! The more I read about SMA III, the more I think it fits him. I'm thinking I should ask the doctors to perform a gene test. Thanks Jen
Posted: Sun Nov 20, 2005 8:11 pm

Author:

Jen

Post Reply

One Reply

Message

Posted

Re: I'm wondering if my five year old should get the gene test?

I hope you have received the info you require by now but if not, why don't you ring the office and they can put you in touch with the genetics centre nearest you? I don't know where you are based but maybe you could contact the centre at Guys hospital in London and ask there advice. Good luck.

Post Reply

Sun Dec 4, 2005 6:10 pm

Emma

	Post a reply to this question

	Back to list of questions

	Back to list of topics

	Register

Reply Listing

One Reply

Re: I'm wondering if my five year old should get the gene test?

See Also