I haven't been able to get a diagnosis for my 4 yr old son who 8 months ago began to exhibit extensive hand weakness. After beginning physical therapy (twice a week every week since) we have identified that he has almost no muscle strength in his thumbs and he has significant shoulder, back, and abdominal/trunk weakness. He hit all of his developmental milestones on time or early (he's my fourth), he had a quick, uncomplicated, vaginal birth w/out any known trauma or cord event. He had extensive blood and urine tests as well as a brain and spine MRI. Everything has come back completely normal. Please help. Doing my own research, I came across Desmin storage myopathy...is this a viable diagnosis? Would it have been detected in his bloodwork? They did everything. It took 6 weeks for some of it to come back. His neurologist said "he's just wired this way", but I'm not satisfied with that. He wasn't like this his first 3 years. He's doing great, but as a mom, I've got to know that I'm doing all I should/can for him. Thanks is advance for your help and advice. :)
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