8C72

Congenital myopathies

Miopatias congênitas

Category

Diagnostic Criteria

Signs & symptoms: Clinically, the congenital myopathies have several common features: geenralized weakness, hypotonia,hyporeflexia, poor muscle bulk, and dysmorphic features such as pectus carinatum, scoliosis, foot deformities, high arched palate and elongated facies, secondary to the myopathy. Can be inherited in an autosomal dominant, autosomal recessive, or x-linked pattern.

Subcategories (2)