Get the facts on Congenital Myopathies treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Congenital Myopathies prevention, screening, research, statistics and other Congenital Myopathies related topics. We answer all your qestions about Congenital Myopathies.
Question: is a congenital myopathy possible w/ a normal muscle and skin biopsy? my two year old had an EMG indicative of a myopathy, reduced reflexes, and very lax joints (mostly ankles. weakness is greater in legs and then shoulders, with some mild in trunk. )The surgeon performing the biopsy said she had much less muscle mass than he would have expected. She has been in PT for 16 mo and just started walking 2 mo ago. She has normal CK levels and we have done extensive blood work. Her biopsy just returned as normal, and I am wondering if it is possible to have a myopathy w/ a normal biopsy? I can't talk to her doc until august,and would love any thoughts on this.
Answer: Not an expert on this stuff, but I'll tell you what I know.
It's possible that during the biopsy, they got a sample that--just by bad luck--didn't have any affected tissue. If your doctor's clinical suspicion is high, he may ask to repeat the biopsy. It's also possible that the myopathy is so mild that there would only be minimal findings on biopsy that might get missed.
In medicine it's an unfortunate fact that there are exceptions to nearly every rule. Although biopsies are generally pretty solid as diagnostic tools, there's no such thing as a test that is 100% perfect. That's why we still need doctors to look at the whole patient and weigh all the findings together.
Question: Just a few questions about occupational therapy? is there an occupational therapy just dealing with kids? like for example 1-17 yrs. or something like that.
how much can they make a year or month?
can they specialize in just a couple of areas like congenital myopathy, cerebral palsy, etc.. or do they do it all like blindness, Alzheimer's etc.
and finally do they work at the person's house or at the hospital?
Answer: Yes there are many ot's who deal with kids. one of the disorders i have (spd) ot's pretty much only deal with kids which sucks there are a few adult ones but very few in the spd range anyhow..generally it will be broad to an extent but you will have certain interests or specializations that you are better/more knowledgable about...where they work depends they can work at the home, a clinic, a rehabilitation center, out of the hospital...don't know how much they make tho...oh and i am surprised how much wikipedia actually has on ot's might be worth checking out...
