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.;
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.