[A case of myotonic dystrophy proved by DNA analysis].
The authors describe a case of a 53 years old man with myotonic dystrophy. Based on characteristic clinical symptoms and EMG results the diagnosis was established and proved on DNA examination. Myotonic dystrophy gene analysis showed on 3' untranslated region one hundred and fifty CTG triplet repeats. The accessory examinations revealed: cataract arrhythmias, gallbladder stones, impotence, cerebral atrophy on neuroimaging (CT and MRI). Apathy, somnolence, concentration troubles were present. Pedigree of the presented patient and possibility of spontaneous mutation are discussed.
Juryńczyk
J
J
Oddziału Neurologii Szpitala im. Jana Pawła II w Bełchatowie.
Weglewski
A
A
D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D004576:Electromyography / Q000379:methods; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed