LAMA2-related muscular dystrophy
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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.
Descrizione
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.
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.
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.
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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
LAMA2 MD
Laminin alpha 2 deficiency
Laminin alpha-2 deficient muscular dystrophy
MDC1A
Merosin-deficient muscular dystrophy
Muscular dystrophy due to LAMA2 deficiency
Related patient information and medicines
Patient information leaflet
Debolezza muscolare
It is also seen in a condition called distrofia muscolare (discussed further below). B... Rare causes of muscular weakness Genetic conditions affecting muscles Muscular dystrophies : These are inherited diseases which affect muscles. They are rare disorders but the best known and most common is Distrofia muscolare di Duchenne. This occurs in children.
Patient information leaflet
Amniocentesi
If you have a screening test that shows a high risk of. A... If you have, or your partner has, a genetic disorder, or are carriers for a genetic disorder that could be passed on to the baby. Examples include sickle cell anaemia , thalassaemia , cystic fibrosis and Distrofia muscolare di Duchenne. If there is a history of certain genetic conditions in.
Patient information leaflet
Distrofia muscolare
Distrofia muscolare è an inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. What is muscular dystrophy. Muscular dystrophy (MD) is the name given to a group of.
Patient information leaflet
Test genetici
Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. It can identify changes in the number of chromosomes ( for example, Down's syndrome in which there is an extra chromosome number 21). Fluorescent in situ hybridisation (FISH) analysis - this test looks at certain parts of the chromosomes and can.
Patient information leaflet
Pianificare una gravidanza
This may need to be discussed with an occupational health doctor. There are information guides from the Health and Safety Executive (HSE) website. They also have an information line for women with a health and safety concern at work but who do not wish to discuss their intention to become pregnant with their employer. Medical con... Congenital.
Patient information leaflet
Disprassia
Developmental co-ordination disorder (DCD), also known as dyspraxia, is a common condition which mainly affects motor co-ordination - the way the body organises and carries out movement-related tasks. It can also affect other activities, including speech. General learning d... Medical causes of neuromuscular problems - eg, cerebral palsy. Muscular.
Ulteriori letture e riferimenti
- LAMA2-related muscular dystrophy; MedlinePlus, National Library of Medicine.
- Buteica E, Rosulescu E, Burada F, Stanoiu B, Zavaleanu M. Merosin-deficient congenital muscular dystrophy type 1A. Rom J Morphol Embryol. 2008;49(2):229-33.
- Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve. 2011 Nov;44(5):703-9. doi: 10.1002/mus.22132. Epub 2011 Sep 26.
- Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6.
- Lokken N, Born AP, Duno M, Vissing J. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle Nerve. 2015 Oct;52(4):547-53. doi: 10.1002/mus.24588. Epub 2015 Aug 13.
- Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bonnemann CG. Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies. Neuromuscul Disord. 2015 Jan;25(1):43-54. doi: 10.1016/j.nmd.2014.09.010. Epub 2014 Sep 28.
- Reed UC. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr. 2009 Mar;67(1):144-68. doi: 10.1590/s0004-282x2009000100038.
- Reed UC. Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr. 2009 Jun;67(2A):343-62. doi: 10.1590/s0004-282x2009000200035.
- Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16.
- Xiong H, Tan D, Wang S, Song S, Yang H, Gao K, Liu A, Jiao H, Mao B, Ding J, Chang X, Wang J, Wu Y, Yuan Y, Jiang Y, Zhang F, Wu H, Wu X. Genotype/phenotype analysis in Chinese laminin-alpha2 deficient congenital muscular dystrophy patients. Clin Genet. 2015 Mar;87(3):233-43. doi: 10.1111/cge.12366. Epub 2014 Mar 31.
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