Muscular Dystrophy, Congenital, With Cerebellar Atrophy

Echenne et al. (1998) described 4 patients, 2 of whom were sibs, with congenital muscular dystrophy, mild intellectual impairment, and moderate to severe cerebellar atrophy. In addition, they referred to 4 earlier reports of sporadic cases with isolated cerebellar atrophy with features of the Dandy-Walker syndrome in the presence of congenital myopathy. Onset of the disorder in the patients reported by Echenne et al. (1998) was neonatal in 2 cases and at 3 and 7 months in the others. The brother and sister were 13 and 16 years of age at follow-up. Creatine kinase was markedly elevated. Merosin, dystrophin, and sarcoglycan immunostaining of skeletal muscle showed no abnormality. The authors believed the disorder could be differentiated from the dystroglycanopathies Fukuyama congenital muscular dystrophy (253800), Walker-Warburg syndrome, and muscle-eye-brain disease (see, e.g., 236670). They suggested that congenital muscular dystrophy with cerebellar atrophy is a distinct autosomal recessive disorder.