Myopathy, Centronuclear, 1 (CNM1)

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GARD: ¹⁹ Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don't develop until adolescence or early adulthood and may include slowly progressive muscle weakness, muscle pain with exercise and difficulty walking. Although some affected people will eventually lose the ability to walk, this usually does not occur before the 6th decade of life. In more severe cases, affected people may develop symptoms during infancy or early childhood such as hypotonia and generalized weakness. These children generally have delayed motor milestones and often need wheelchair assistance in childhood or adolescence. Most cases of AD-CNM are caused by changes in the DNM2 gene; however, some affected families are reported to have genetic changes in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant manner.

MalaCards based summary: Myopathy, Centronuclear, 1, also known as autosomal dominant centronuclear myopathy, is related to myopathy, centronuclear, 4 and centronuclear myopathy, and has symptoms including facial paresis and ophthalmoparesis. An important gene associated with Myopathy, Centronuclear, 1 is DNM2 (Dynamin 2). The drugs Sodium citrate and Tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and peripheral nerve, and related phenotypes are centrally nucleated skeletal muscle fibers and ptosis

OMIM®: ⁵⁷ Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005). (160150) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: ⁷³ A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.

Orphanet: ⁵⁸ A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.

Disease Ontology ¹¹ Autosomal dominant centronuclear myopathy: A centronuclear myopathy that has material basis in autosomal dominant inheritance.

Centronuclear myopathy 1: An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has material basis in heterozygous mutation in DNM2 on 19p13.2.

Clinical features from OMIM®:

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