Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia.
A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality.
Beals
Rodney K
RK
Department of Orthopaedics and Rehabilitation, Oregon Health and Science University, Portland, Oregon, USA. bealsr@ohsu.edu
Weleber
Richard G
RG
D001176:Arthrogryposis / Q000235:genetics / Q000473:pathology*; D003286:Contracture / Q000473:pathology*; D005192:Family Health; D005260:Female; D005384:Finger Joint / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D009886:Ophthalmoplegia / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome; D014335:Tropomyosin / Q000235:genetics; D019210:Troponin I / Q000235:genetics
D014335:Tropomyosin; D019210:Troponin I