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Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness
Author(s) -
Korf Bruce R.,
Bresnan Michael J,
Shapiro Frederic,
Sotrel Anna,
Abroms Isreal F.
Publication year - 1985
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410170516
Subject(s) - facioscapulohumeral muscular dystrophy , medicine , audiology , sensorineural hearing loss , spastic diplegia , diplegia , dystrophy , pediatrics , hearing loss , physical medicine and rehabilitation , muscular dystrophy , cerebral palsy , pathology
Six patients are described in whom facial diplegia occured in the first year of life, with subsequent development of facioscapulohumeral dystrophy. All had severe proggressive disability prior to adolescence. Facial involvement did not include extraucular muscles. All six patients had a sensorineural hearing loss. Evidence of a mildly affected parent was found in three families. Progressive and severe facioscapulohumeral dystrophy accompanied by facial diplegia and sensorineural hearing loss may represent a separate genetic form of facioscapulohumeral dystrophy.