Adult-onset autosomal recessive neurogenic scapuloperoneal syndrome.
We report a brother and sister who showed weakness, atrophy and fasciculations starting in adulthood, predominantly affecting the muscles of the shoulder girdles and distal lower extremities. Mild ptosis and facial weakness were present in both. Electrophysiological studies and muscle histology supported a neurogenic basis for the autosomal recessive scapuloperoneal syndrome in this sibship.
Tandan
R
R
Department of Neurology, University of Vermont, College of Medicine, Burlington 05405.
Verma
A
A
Mohire
M
M
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000502:physiology*; D009132:Muscles / Q000294:innervation / Q000473:pathology / Q000503:physiopathology*; D009135:Muscular Diseases / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012782:Shoulder / Q000503:physiopathology*; D013577:Syndrome