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Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness
Insights
Facial diplegia and sensorineural hearing loss in infancy, followed by severe facioscapulohumeral dystrophy, may indicate a distinct genetic disorder. This condition leads to significant disability before adolescence.
Area of Science:
- Neurology
- Genetics
- Ophthalmology
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) is a progressive genetic disorder.
- Facial weakness is a common but variable feature of FSHD.
- Early-onset and severe forms of FSHD require further characterization.
Abstract:
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.