Discussions By Condition: I cannot get a diagnosis.

2.5 yo, carnitine deficiency, muscular dystrophy, hypotonia, dislocated hips, what?

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: kds228
  • June 17, 2008
  • 08:47 PM

I have a two and a half year old son who has had physical problems since birth. He has been diagnosed with Congenital Muscular Dystrophy and Carnitine Deficiency. The doctors really don't know where to go now. CKP test was 311 at birth, has now normalized. Other tests that had a negative result are Prader-Willi FISH, MRI (brain and legs), EKG, CT, numerous genetic tests, skin biopsy for octn2 gene, and muscule biopsy (all proteins present). He is a very bright little boy. He said his first word at 4 months. All milestones are on track except gross motor. He sat on time, crawled at 1 yr, beared weight at 18 months, started cruising at 21 months, and just kind of stopped there. He started taking Carnitor for the carnitine deficiency and we saw immediate results in the upper body tone, but lower body never came around. He is on canes and is doing ok. He was recently diagnosed with bi-lateral hip dysplasia. Yes, he is two and a half and x-rays showed it at birth. The dr.s never followed up on it and we were never informed until Feb. of this year. Ortho. says he wants him walking before surgery. He is far from walking. He has the classic gower's sign. He can't even stand completely upright. Does any one have any suggestions on a real diagnosis, or any thoughts that could help us on our journey? Even the dr.s are questioning the MD diagnosis. We don't know what else to do. Please help!

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