title: A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.
abstract: We studied phenotype-genotype correlation in a group of Polish males with spinal and bulbar muscular atrophy (SBMA) and in female carriers. Eleven males with suspected SBMA phenotype and three suspected female carriers were examined. Male patients presented with the predominant signs of progressive, symmetrical distal limb weakness with amyotrophy, facial muscular weakness with orofacial fasciculations, nasal voice and slight dysphagia, gynaecomastia, decreased potency, as well as hand tremor and distal peripheral sensory disturbances in a few cases. One of the carriers presented with a 30-year history of fasciculations and minimal distal weakness and cramps in the legs, while the other two were asymptomatic. DNA analysis revealed expanded size of CAG repeats in Xq11-12 in the AR gene in 10 out of 11 men (range 45-52 CAG repeats) and in the women (range 46-48 CAG repeats). There was no correlation between CAG repeat size and the age of disease onset and duration of the disease. A rare, predominantly distal distribution of weakness and amyotrophy was found in our group of the SBMA patients (8 out of 11 cases) from three unrelated kindreds and also in the remaining two sporadic cases. The extended CAG repeats within families were stable.
authors.affiliation: Department of Neurology, Jagiellonian University Medical College, 3 Botaniczna Street, 31-503 Krakow, Poland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Tomik
authors.forename: Dorota
authors.initials: D
authors.lastname: Partyka
authors.forename: Anna
authors.initials: A
authors.lastname: Sułek
authors.forename: Elzbieta A
authors.initials: EA
authors.lastname: Kurek-Gryz
authors.forename: Marta
authors.initials: M
authors.lastname: Banach
authors.forename: Monika
authors.initials: M
authors.lastname: Ostrowska
authors.forename: Jacek
authors.initials: J
authors.lastname: Zaremba
authors.forename: Denise A
authors.initials: DA
authors.lastname: Figlewicz
authors.forename: Andrzej
authors.initials: A
authors.lastname: Szczudlik
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics; D004576:Electromyography; D004594:Electrophysiology; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology; D020966:Muscular Disorders, Atrophic / Q000235:genetics* / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D011044:Poland / Q000453:epidemiology; D012091:Repetitive Sequences, Nucleic Acid; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D004247:DNA