Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness.
Six patients are described in whom facial diplegia occurred in the first year of life, with subsequent development of facioscapulohumeral dystrophy. All had severe progressive disability prior to adolescence. Facial involvement did not include extraocular 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.
D002675:Child, Preschool; D003402:Creatine Kinase / Q000032:analysis; D003638:Deafness / Q000150:complications*; D004576:Electromyography; D005152:Facial Muscles; D005158:Facial Paralysis / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction; D012782:Shoulder
D003402:Creatine Kinase