Familial adult‐onset muscular dystrophy with leukoencephalopathy

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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.