[Peroneal muscle atrophy with talipes cavus. Pyramidal symptoms and sensory disorders in one family. On the problem of the nosological classification of hereditary spinal diseases and polyneuropathies].
We describe a family with peroneal muscular weakness and atrophy with associated pyramidal signs. Onset of obvious symptoms was usually after the age of 50 years, but history pointed to subtle symptoms at an earlier age. The disorder was of autosomal dominant inheritance. The muscle weakness involved only the legs. All affected persons remained independent as regards their ability to walk. Sensory disturbances were never significant for the affected individual. With regard to the neurographies, the disease could be classified as a form of hereditary motor and sensory neuropathy (HMSN). The clinical picture, however, allows the classification of the disease as a form of spinal muscular atrophy or spastic spinal paralysis. We discuss the diagnostic implications of such disorders, which involve both the peripheral and the central motor pathways.
Schnider
A
A
Neurologische Universitätsklinik, Inselspital Bern.
Hess
C W
CW
Meier
C
C
D000328:Adult; D000368:Aged; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005799:Genes, Dominant; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D010543:Peroneal Nerve; D013577:Syndrome
Peroneale Muskelatrophie mit Hohlfuss, Pyramidenzeichen und Sensibilitätsstörungen in einer Familie. Zum Problem der nosologischen Zuordnung hereditärer Spinalerkrankungen und Polyneuropathien.