RT Journal Article
SR Electronic
T1 Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 105
OP 108
DO 10.1136/jmg.26.2.105
VO 26
IS 2
A1 E Boltshauser
A1 W Lang
A1 T Spillmann
A1 E Hof
YR 1989
UL http://jmg.bmj.com/content/26/2/105.abstract
AB 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.