Presumably Azorean disease in a presumably non-Portuguese family.
Autosomal dominant motor system degeneration (ADMSD) is a hereditary ataxia that has been reported previously only in Portuguese families from the Azores Islands. Cerebellar ataxia, pyramidal and extrapyramidal signs, amyotrophy, dystonia, abnormal eye movements, and prominent eyes are variably present. Four members of a family had cerebellar ataxia, dystonic posturing, a variety of abnormal eye movements, and prominent eyes resulting from lid retraction. Eight other family members had a similar disease. The combination of cerebellar ataxia, dystonia, abnormal eye movements, and prominent eyes has been reported only in ADMSD. The family reported here may be the first example of ADMSD in a non-Portuguese family.
D000328:Adult; D001394:Azores; D002524:Cerebellar Ataxia / Q000235:genetics*; D004421:Dystonia / Q000235:genetics; D005133:Eye Movements; D005260:Female; D006801:Humans; D008297:Male; D009410:Nerve Degeneration; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed; D014481:United States