Wobbly hips?

AnnieB3 · 10-15-2010, 10:58 PM

I don't know if you guys have seen this site or not.

http://neuromuscular.wustl.edu/synmg.html

And simply because you don't have MG antibodies does not mean you don't have an "acetylcholine" disease.

Quote:

Semin Neurol. 2004 Mar;24(1):111-23.
Congenital myasthenic syndromes.
Harper CM.

Mayo College of Medicine, Rochester, Minnesota, USA.
Abstract
Congenital myasthenic syndromes are genetic disorders of neuromuscular transmission that should be considered in the differential diagnosis of seronegative myasthenia gravis and other neuromuscular disorders. They are present at birth but may not manifest until childhood or adult life. A classification system of congenital myasthenic syndromes based on molecular genetics is under evolution. Clinical and neurophysiological correlations with molecular studies have defined diagnostic criteria that assist the clinician in identifying specific clinical myasthenic syndromes. Some types of congenital myasthenia (e.g., slow-channel and fast-channel syndrome, acetylcholinesterase deficiency, and choline acetyltransferase deficiency) can be identified by clinical features, response to cholinesterase inhibitors, and standard electrodiagnostic studies. The molecular genetics, pathogenesis, clinical features, differential diagnosis, natural history, and treatment of well-characterized congenital myasthenic syndromes are discussed.

PMID: 15229798 [PubMed - indexed for MEDLINE]

If you page down in that WUSTL site, you'll find limb girdle MG/CMS.

Have you both been tested for polymyositis?

Just thought I'd throw that info out there.

Athena, A doctor who "gives up" on you after doing the least amount of testing is not worth their degree. Get a copy of your test results so that you KNOW what was done and what the results were. Don't take their word for it.

How long have you had symptoms? Do they get worse with activity (obviously they do, like after running)? Keep a log of symptoms and when they happen. It will help.

I hope you guys get answers as to what is really going on!

Annie

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