Myopathy, Centronuclear, 1 (CNM1)

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Disease Ontology 12 DOID:0111217 DOID:0111223 OMIM 56 160150 OMIM Phenotypic Series 56 PS160150 MeSH 43 D020914 SNOMED-CT 67 716696006 ICD10 via Orphanet 33 G71.2

UMLS via Orphanet 72 C1834558 Orphanet 58 ORPHA169189 MedGen 41 C1834558 C4551952 SNOMED-CT via HPO 68 11934000 128208007 165232002 17369002 193093009 19373007 203598005 204878001 213026003 228158008 248268002 249697003 249710008 249939004 263681008 276369006 28314004 33377007 349006 367403001 37280007 385522000 405501007 413654009 41405005 416824008 430099007 46252003 55033002 56975005 57048009 60703000 61960001 7890003 86203003 88565003 95666008 more UMLS 71 C1834558 C3661489

NIH Rare Diseases : ⁵² 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 (mutations ) in the DNM2 gene ; however, some affected families are reported to have mutations in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.

MalaCards based summary : Myopathy, Centronuclear, 1, also known as autosomal dominant centronuclear myopathy, is related to myopathy, centronuclear, 4 and myopathy, centronuclear, 6, with fiber-type disproportion, and has symptoms including ophthalmoparesis and facial paresis. An important gene associated with Myopathy, Centronuclear, 1 is DNM2 (Dynamin 2), and among its related pathways/superpathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Fc gamma R-mediated phagocytosis. Affiliated tissues include eye, skeletal muscle and testes, and related phenotypes are centrally nucleated skeletal muscle fibers and ptosis

Disease Ontology : ¹² 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.

OMIM : ⁵⁶ 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)

UniProtKB/Swiss-Prot : ⁷³ Myopathy, centronuclear, 1: 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.

Clinical features from OMIM:

160150

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