X-linked bulbo-spinal neuronopathy of late onset: sporadic case.
We describe a sporadic case of a rare form of X-linked bulbo-spinal neuronopathy (BSN) of late onset. This case emphasizes the importance of recognizing the sporadic cases of this X-recessive disease for genetic counselling.
D000367:Age Factors; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome