Facio-Scapulo-Humeral Muscular Dystrophy (FSH Muscular Dystrophy)
General: Autosomal dominant disorder; onset varies fro 828b17i m infancy to old age; severity varies from scarcely detectable to incapacitating; recessive inheritance has been reported.
Ocular: Retinal telangiectasis; macular lesion; macular edema; retinal sea fans.
Clinical: Deafness; wasting of shoulder girdle, upper deltoid, pectoralis, biceps, and triceps; difficulty whistling, drinking through straws, and playing wind instruments; foot dragging; mental retardation.
Brouwer OF, et al. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991; 41:1878-l881.
Gurwin EB, et al. Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness. Arch Ophthalmol 1985; 103:1695-l700.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Meyerson MD, Lewis EK. Facioscapulohumeral muscular dystrophy and accompanying hearing loss. Arch Otolaryngol 1984; 110:261-266.
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