Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?. Issue 2 (February 1989)

• Record Type: Journal Article
• Authors: Boltshauser, E; Lang, W; Spillmann, T; Hof, E
• Is Part Of: Journal of medical genetics. Volume 26:Issue 2(1989)
• Page Start: 105
• Page End: 108
• Publication Date: 1989-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.26.2.105
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : In 1980 Young and Harper described a family with an unusual form of distal spinal muscular atrophy associated with vocal cord paralysis. We report a family with three similarly affected subjects. Progressive sensorineural hearing loss was an additional feature in our patients. Electrophysiological and histological investigations did not exclude an involvement of sensory neurones. Whether the classification of this dominant disorder with the spinal muscular atrophies is justified will depend on additional studies in further families.