Nemaline Myopathy 3 (NEM3)

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Disease Ontology 12 DOID:0110927 OMIM 56 161800 OMIM Phenotypic Series 56 PS161800 MeSH 43 D017696 D020914 ICD10 via Orphanet 33 G71.2

UMLS via Orphanet 72 C1834336 C3711389 Orphanet 58 ORPHA98904 MedGen 41 C1834336 C1834339 C2750536 C2750537 C3711389 CN187050 more SNOMED-CT via HPO 68 103606006 111246005 111266001 16046003 193093009 195021004 205091006 205294008 249710008 249939004 258211005 263681008 26432009 271706000 27272007 276369006 288939007 349006 37280007 398432008 399020009 405946002 40739000 41581000 56731001 61960001 64217002 713514005 77016009 86203003 86854008 95666008 more UMLS 71 C1834336 C3711389

OMIM : ⁵⁶ Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001). Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see 255310), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). (161800)

MalaCards based summary : Nemaline Myopathy 3, also known as myopathy, actin, congenital, with excess of thin myofilaments, is related to myopathy and nemaline myopathy 11, autosomal recessive, and has symptoms including generalized muscle weakness, waddling gait and facial paresis. An important gene associated with Nemaline Myopathy 3 is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle and bone, and related phenotypes are hyperreflexia and hypertonia

Disease Ontology : ¹² A nemaline myopathy that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

UniProtKB/Swiss-Prot : ⁷³ Myopathy, actin, congenital, with excess of thin myofilaments: A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent.
Nemaline myopathy 3: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination.

Wikipedia : ⁷⁴ Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

Clinical features from OMIM:

161800

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 3

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