FAMILIAL FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - PHENOTYPIC DIVERSITY AND GENETIC ABNORMALITY

We report two cases showing facioscapulohumeral muscular dystrophy (FS HD) with phenotypic diversity but the same genetic abnormality detecte d by a p13E-11 probe. The proband, a 26-year-old woman, showed an earl y onset, tortuosity of retinal arterioles and respiratory failure. The 53-year-old mother of the proband had limb-girdle (L-G) type muscular weakness with very mild facial involvement. Muscle biopsy showed peri vascular cell infiltration in both patients. These cases suggest that the phenotypic diversity ranges from L-G type weakness to severe respi ratory failure in FSHD family. (C) Munksgaard 1996.