" /> Autosomal recessive centronuclear myopathy - CISMeF





Preferred Label : Autosomal recessive centronuclear myopathy;

ICD-11 definition : 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 characterized 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.;

Details


You can consult :

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 characterized 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.

Nous contacter.
06/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.