[A case of dystrophic myotonia with familial analysis].
The description of the 37-years old patient is a classic example of fully symptomatic myotonic dystrophy. The diagnosis was established on: 1. the medical history of the patient, 2. the analysis of pedigree which revealed the treatment of 8 cases of the disease, 3. the examination which demonstrated central signs of myotonic dystrophy, 4. laboratory investigations especially the histopathological examination of the tibial anterior muscle and electromyography. The analysis of the pedigree confirmed the genetical background of the disease and its autosomal dominant inheritance. The 4-year follow-up confirmed the progressive course of the disease.
Nadgrodkiewicz
K
K
Oddział Neurologii, Wojewódzki Szpital Zespolony, Radomiu.
D000328:Adult; D017668:Age of Onset; D001059:Apoproteins / Q000235:genetics; D001774:Blood Chemical Analysis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002888:Chromosomes, Human, Pair 19; D004576:Electromyography; D005123:Eye / Q000503:physiopathology; D005128:Eye Diseases / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D005192:Family Health; D005260:Female; D006801:Humans; D009132:Muscles / Q000503:physiopathology; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D016138:Walking
D001059:Apoproteins
Przypadek dystrofii miotonicznej--opis rodziny.