Myotonic dystrophy
Analysis ID 98
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Myotonic dystrophy
OMIM #160900
Clinical information Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region (CTG) of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in an EDTA tube
Analyzed genes DMPK
Analysis description
Analysis indication Symptoms of myotonic dystrophy
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders