X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?).
X-linked spinal and bulbar muscular atrophy of late onset is a rare variety of motor neuron disease. In this report a Greek family with 2 affected brothers is described. It is interesting that all Greek cases of this disease originate from a small group of Greek islands. Transient fatigue is an additional feature of the disease which is manifested sometimes before other symptoms are apparent. The progression of the disease appears to be faster than in spinal muscular atrophy of Wohlfart-Kugelberg-Welander. Regarding the name of this disorder, we propose the descriptive term, 'X-linked spinal and bulbar atrophy of late onset' or 'Kennedy-Stefanis disease.
D001927:Brain Diseases / Q000235:genetics; D005260:Female; D006115:Greece; D006801:Humans; D008297:Male; D008526:Medulla Oblongata; D008875:Middle Aged; D009046:Motor Neurons; D009133:Muscular Atrophy / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000235:genetics*; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013118:Spinal Cord Diseases / Q000235:genetics*; D014960:X Chromosome