Congenital Muscular Dystrophy with Cerebellar Atrophy

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Congenital muscular dystrophy (CMD) is a disorder which usually presents at birth with skeletal muscle dysfunction. Cases have been described with associated severe central nervous system (CNS) abnormalities, but usually the condition proceeds without CNS impairment, particularly in less severe cases. A 25-year-old patient is described with clinical and pathological features of CMD accompanied by cerebellar dysfunction, most likely the result of cerebellar atrophy. This patient is thought to have a benign variety of CMD with CNS involvement, and this report stresses the fact that CMD can be associated with minimal CNS abnormalities and have a benign course.