A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.
Of a family consisting of 54 members, 44 were examined. Twenty-one showed signs of a clinically non-progressive congenital lower motor neuron disorder restricted to the lower part of the body, which resulted in arthrogryposis in 15 cases. The mode of inheritance is autosomal dominant with very varied expression of the gene.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001176:Arthrogryposis / Q000235:genetics*; D002648:Child; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons; D009132:Muscles / Q000000981:diagnostic imaging / Q000473:pathology; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000235:genetics*; D010375:Pedigree; D013116:Spinal Cord / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed