Abstract
Facioscapulohumeral dystrophy (FSHD) is usually mild, has slow progression and lacks cardiac involvement and mental regression. The mode of inheritance is autosomal dominant. We studied 3 siblings and their mother who showed:
DTR and sensorium were intact. EKG and NCV studies were normal. EMG revealed myopathy. Muscle biopsy of deltoids showed type I fiber atrophy. No one else in the family had isolated hearing loss, muscle weakness or tortuous vessels.
The phenotype in this family suggests pleiotropism or a new type of autosomal dominant FSHD. Audiologic and ophthalmologic evaluations appear warranted for patients with FSHD.
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Kousseff, B., Gieronr, M., Korthals, J. et al. 1299 FACIOSCAPULOHUMERAL DYSTROPHY WITH COCHLEAR HEARING LOSS AND TORTUOSITY OP RETINAL VESSELS. PLELOTROPISH CR HETERCGENEITY?. Pediatr Res 19, 327 (1985). https://doi.org/10.1203/00006450-198504000-01323
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DOI: https://doi.org/10.1203/00006450-198504000-01323
