title: X-linked recessive bulbospinal neuronopathy.
abstract: The first case of X-linked recessive bulbospinal neuronopathy in a Thai family is described. Clinical features of this entity were discussed. Although two members of this family had classical features of X-linked recessive bulbospinal neuronopathy, there were some differences in distribution of weakness among the affected members. This variation among the members of the affected family was firstly described. The clinical features of this disease especially the associated gynecomastia and essential tremors are distinctive and it is possible to diagnose it even in a sporadic case. Although, the prominent feature of the disease is atrophy and fasciculation of muscles, this entity is not a pure anterior horn cell disorder and should be better classified as a multisystem disorder due to multiple organ involvement.
authors: Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors: K
authors: K
authors: Phanthumchinda
mesh_terms: D000328:Adult; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome