Catalog

Autosomal recessive centronuclear myopathy

No MMS code

Link to WHO Definition

Autosomal recessive centronuclear myopathy – http://id.who.int/icd/entity/1844602815

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The age of onset varies from birth to childhood. AR-CNM is characterised by facial weakness including severe involvement of the masticatory muscles, and ocular abnormalities such as ptosis and external ophthalmoplegia. Muscle weakness is seen with variable severity and is usually prominently proximal.