Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions.

Acronym

MDCDC

Keywords

Congenital muscular dystrophy