Lama2-Related Muscular Dystrophy

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KEGG 36 H01958 SNOMED-CT via HPO 68 102594003 102968003 111266001 11399002 128496001 15993004 161832001 162020001 16331000 193093009 2032001 203598005 205294008 2120003 228156007 23024003 230413002 235595009 240059009 247578003 248342006 248401009 249710008 249872000 25273001 255385008 262016004 262285001 26432009 26889001 274523007 282145008 285503005 288939007 29753000 31515003 385522000 386806002 40739000 409622000 413585005 432241000124101 43994002 44808001 448739000 46621007 50417007 50866000 55033002 57048009 57809008 61960001 64217002 67867005 68052005 697898008 698065002 698247007 70995007 75630004 7890003 79631006 80954004 81415000 85898001 88565003 89362005 91138005 95666008 more

UMLS 71 C1263858

Genetics Home Reference : ²⁵ LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form. LAMA2 Early-onset LAMA2-related muscular dystrophy is apparent at birth or within the first few months of life. It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness of the muscles in the face and throat can result in feeding difficulties and an inability to grow and gain weight at the expected rate. Respiratory insufficiency, which occurs when muscles in the chest are weakened, causes a weak cry and breathing problems that can lead to frequent, potentially life-threatening lung infections. LAMA2 As affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with early-onset LAMA2-related muscular dystrophy often do not develop the ability to walk. Difficulty with speech may result from weakness of the facial muscles and an enlarged tongue. Seizures occur in about a third of individuals with early-onset LAMA2-related muscular dystrophy; rarely, heart complications occur in this form of the disorder. LAMA2 LAMA2 Symptoms of late-onset LAMA2-related muscular dystrophy become evident later in childhood or adulthood, and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. Over time, they may develop rigidity of the back, joint contractures, scoliosis, and breathing problems. However, most affected individuals retain the ability to walk and climb stairs. LAMA2 LAMA2 LAMA2

MalaCards based summary : Lama2-Related Muscular Dystrophy, also known as mdc1a, is related to laminin subunit alpha 2-related muscular dystrophy and muscular dystrophy. An important gene associated with Lama2-Related Muscular Dystrophy is LAMA2 (Laminin Subunit Alpha 2), and among its related pathways/superpathways is ECM-receptor interaction. Affiliated tissues include skeletal muscle, eye and lung, and related phenotypes are gastroesophageal reflux and myositis

NIH Rare Diseases : ⁵² Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia , muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis ; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. The prognosis is poor, as many affected children do not reach adolescence. It is caused by mutations in the LAMA2 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and includes a multidisciplinary approach.

KEGG : ³⁶ Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Clinical manifestations include severe weakness, hypotonia at birth, and high creatine kinase (CK) levels.

GeneReviews: NBK97333

Search NIH Clinical Center for Lama2-Related Muscular Dystrophy

Search GEO for disease gene expression data for Lama2-Related Muscular Dystrophy.