Familial adult-onset muscular dystrophy with leukoencephalopathy.

van Engelen, B G; Leyten, Q H; Bernsen, P L; Gabreëls, F J; Barkhof, F; Joosten, E M; Hamel, B C; ter Laak, H J et al. · Ann Neurol · 1992

case_report · Level V

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Abstract

We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.

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