Hi jschwab547,

I'm sorry to hear about your son's problems. These sorts of
problems can be very frustrating to diagnose and I can appreciate
your frustration as a parent.

Duchenne MD is just one of many neuromuscular conditions that could
be the cause of the symptoms. Since it's one of the most common
things, especially in boys, that's why people usually test for it
first.

I don't want to speculate on what your son's diagnosis might be, but
dysferlin deficiency is probably one of the less likely
possibilities, since patients usually start to have symptoms much
older than 5 years of age.

There are a number of tests that can be used to help with a
diagnosis. These include testing a muscle biopsy (or sometimes a
blood sample) for various proteins whose absence causes various forms
of muscular dystrophy. The key is to be seen at a place (usually a
neurology department at a major research center) where they are
familiar with the various tests and means of diagnosis.

I'm not sure where you live. If you live in the U.S. you can look up
through the MDA, medical centers located near you where the MDA
sponsors clinics. The MDA doesn't directly run the clinics, but
generally sponsors them in medical centers that are fairly
experienced in neuromuscular diseases and current in their knowledge.

Best of luck to you.

Best wishes,
Brad

--- In dysferlin@yahoogroups.com, "jschwab547" <jschwab547@...> wrote:
>
> My 5 year old son has proximal muscle weakness, CK levels are at
4800,
> his liver enzymes are elevated and his muscle biospy showed mild
muscle
> myopathy. He did the genetic testing for Dueschenne's MD and that
came
> back negative, however stated still a 30% chance he could have it.
We
> have been to 2 Nueorologist's who do not agree on his diagnosis.
One
> said most likely some type of metabolic disorder and the other
thinks
> it is some form of MD. This has been going on for a year now, and
is
> extremely frustrating.
>
> Is there a pediatric hospital, or a doctor known for diagnosing and
> treating children w/ complex nueuromuscular disorders?
>
> Also, are there any other tests that would be helpful and figuring
out
> what is wrong w/ him?
>