Myopathy, Centronuclear, 1

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OMIM 57 160150 Orphanet 59 ORPHA169189 UMLS via Orphanet 74 C1834558 ICD10 via Orphanet 34 G71.2

MedGen 42 C1834558 MeSH 44 D020914 SNOMED-CT via HPO 69 263681008 11934000 19373007 46252003 349006 37280007 203598005 385522000 55033002 57048009 7890003 88565003 248268002 249939004 193093009 95666008 more UMLS 73 C1834558 C3661489

NIH Rare Diseases : ⁵³ 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 myopathy, centronuclear, autosomal dominant, is related to centronuclear myopathy and myopathy, and has symptoms including facial paresis and ophthalmoparesis. An important gene associated with Myopathy, Centronuclear, 1 is DNM2 (Dynamin 2), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Fc gamma R-mediated phagocytosis. Affiliated tissues include eye and skeletal muscle, and related phenotypes are ptosis and external ophthalmoplegia

OMIM : ⁵⁷ Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting (Bitoun et al., 2005). 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. (160150)

UniProtKB/Swiss-Prot : ⁷⁵ 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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