[Atypical spinal amyotrophy in adults].
The authors describe the clinical pleomorphism of atypical spinal amyotrophy of adults (ASAA) characterized by lesions of the anterior horn structures of the cervical part of the spinal cord as well as by the spreading of the process along the entire length of the spinal cord and to the bulbar part of the spine. This is supported by the electrophysiological and morphological data. The disease begins at the 3d and 4th decades of life and progresses to the lethal outcome due to cardiopulmonary insufficiency. Inheritance occurs by the autosomal dominant type with the high penetrance and by the autosomal recessive type stemming from the long-term inbreeding. ASAA described is identical to the late spinal amyotrophy depicted by S. N. Davidenkov according to the data obtained by Browning, Bernhardt and Strümpel. The appearance of an isolated form of ASAA in Saratov Province may be related to the migration of the population 200 years ago from western Europe to the central land along the Volga.
Dubinskaia
E E
EE
Viatkina
S Ia
SIa
D000328:Adult; D002908:Chronic Disease; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D012426:Russia
Atipichnaia spinal'naia amiotrofiia vzroslykh.