title: X-linked spinal and bulbar muscular atrophy without proximal atrophy.
abstract: We report on a case of genetically proven X-linked spinal and bulbar muscular atrophy (X-SBMA) with prominent distal muscle atrophy and without proximal muscle involvement. The patient was a 35-year-old man who had a history of slow progressive hand and distal leg muscle weakness and wasting for 10 years. Motor nerve conduction velocities were normal with reduced compound muscle action potential amplitudes of hand and foot muscles. Sensory action potential amplitudes were small. Needle EMG revealed a chronic partial denervation with reduced interference in hand and distal leg muscles but with normal heading in all tested proximal muscles. Genetic studied showed an expansion of CAG repeat in the first exon of the androgen receptor gene, which suggests diagnosis of X-SBMA. The importance of genetic studies in this patient with unusual clinical presentation is emphasized.
authors.affiliation: Department of Neurology, Medical Faculty of Karadeniz Technical University, 61080 Trabzon, Turkey.
authors.forename: Cavit
authors.initials: C
authors.lastname: Boz
authors.forename: Nilufer
authors.initials: N
authors.lastname: Sahin
authors.forename: Ersan
authors.initials: E
authors.lastname: Kalay
authors.forename: Sibel
authors.initials: S
authors.lastname: Velioglu
authors.forename: Mehmet
authors.initials: M
authors.lastname: Ozmenoglu
mesh_terms: D000328:Adult; D001284:Atrophy / Q000473:pathology / Q000503:physiopathology; D010244:Bulbar Palsy, Progressive / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D004576:Electromyography; D006177:Gynecomastia / Q000150:complications; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D020080:Tandem Repeat Sequences / Q000235:genetics; D014059:Tongue / Q000473:pathology / Q000503:physiopathology