[Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease].

Abstract excerpt

BACKGROUND: Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous skeletal dysplasia. MED is usually inherited as a dominant trait, however, in a quarter of patients it is a recessive trait. Common symptoms of MED are pain and stiffness of joints. However, MED also can present as a neuromuscular disorder with hypotonia and muscle weakness, particularly in childhood. CASE DESCRIPTION:...

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