MCID: LM2001
MIFTS: 34

Lama2-Related Muscular Dystrophy

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lama2-Related Muscular Dystrophy

MalaCards integrated aliases for Lama2-Related Muscular Dystrophy:

Name: Lama2-Related Muscular Dystrophy 24 52 25
Mdc1a 24 52 25
Merosin-Deficient Congenital Muscular Dystrophy 52 36
Laminin Alpha 2-Deficient Congenital Muscular Dystrophy 24
Merosin-Deficient Congenital Muscular Dystrophy Type 1a 24
Muscular Dystrophy, Congenital, Merosin-Deficient 52
Muscular Dystrophy Congenital, Merosin Negative 71
Merosin-Negative Congenital Muscular Dystrophy 52
Laminin Alpha-2 Deficient Muscular Dystrophy 25
Muscular Dystrophy Due to Lama2 Deficiency 25
Early-Onset Laminin Alpha 2 Deficiency 24
Late-Onset Laminin Alpha 2 Deficiency 24
Congenital Muscular Dystrophy Type 1a 52
Merosin-Deficient Muscular Dystrophy 25
Laminin Alpha-2 Deficiency 52
Laminin Alpha 2 Deficiency 25
Lama2 Md 25

Classifications:



Summaries for Lama2-Related Muscular Dystrophy

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

Related Diseases for Lama2-Related Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Progressive Muscular Dystrophy

Diseases related to Lama2-Related Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 laminin subunit alpha 2-related muscular dystrophy 11.9
2 muscular dystrophy 10.6
3 muscular dystrophy-dystroglycanopathy , type a, 1 10.5
4 muscular dystrophy, congenital merosin-deficient, 1a 10.5
5 muscular dystrophy, congenital, lmna-related 10.5
6 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.4
7 polymicrogyria 10.4
8 muscular dystrophy-dystroglycanopathy , type a, 4 10.4
9 walker-warburg syndrome 10.4
10 muscle eye brain disease 10.4
11 pachygyria 10.4
12 peripheral nervous system disease 10.4
13 neuropathy 10.4
14 progressive muscular dystrophy 10.4
15 muscular atrophy 10.3
16 canavan disease 10.3
17 lissencephaly 10.3
18 autosomal recessive disease 10.3
19 neuromuscular disease 10.3
20 cobblestone lissencephaly 10.3
21 atrial standstill 1 10.3
22 myopathy, congenital 10.3
23 cardiomyopathy, dilated, 1b 10.3
24 myopathy, proximal, and ophthalmoplegia 10.3
25 muscular dystrophy-dystroglycanopathy , type b, 5 10.3
26 muscular dystrophy-dystroglycanopathy , type b, 1 10.3
27 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
28 pontocerebellar hypoplasia 10.3
29 transient neonatal diabetes mellitus 10.3
30 neonatal diabetes mellitus 10.3
31 dilated cardiomyopathy 10.3
32 epilepsy 10.3
33 demyelinating polyneuropathy 10.3
34 myocarditis 10.3
35 malignant hyperthermia 10.3
36 diabetes mellitus 10.3
37 collagen type vi-related disorders 10.3
38 cerebellar hypoplasia 10.3
39 cerebral cortical dysplasia 10.3
40 rigid spine muscular dystrophy 1 10.2
41 muscular dystrophy, limb-girdle, autosomal recessive 23 10.2
42 scoliosis 10.2
43 respiratory failure 10.2
44 myopathy 10.2
45 limb-girdle muscular dystrophy 10.2
46 collagen vi related muscular dystrophy 10.2
47 collagen vi-related myopathy 10.2
48 hypotonia 10.2
49 laminin subunit alpha 2-related congenital muscular dystrophy 10.2
50 marfan syndrome 10.2

Graphical network of the top 20 diseases related to Lama2-Related Muscular Dystrophy:



Diseases related to Lama2-Related Muscular Dystrophy

Symptoms & Phenotypes for Lama2-Related Muscular Dystrophy

Human phenotypes related to Lama2-Related Muscular Dystrophy:

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 gastroesophageal reflux 31 hallmark (90%) HP:0002020
2 myositis 31 hallmark (90%) HP:0100614
3 inability to walk 31 hallmark (90%) HP:0002540
4 motor delay 31 hallmark (90%) HP:0001270
5 respiratory failure 31 hallmark (90%) HP:0002878
6 weak cry 31 hallmark (90%) HP:0001612
7 hypokinesia 31 hallmark (90%) HP:0002375
8 congenital muscular dystrophy 31 hallmark (90%) HP:0003741
9 increased connective tissue 31 hallmark (90%) HP:0009025
10 absent muscle fiber merosin 31 hallmark (90%) HP:0030091
11 muscle fiber atrophy 31 hallmark (90%) HP:0100295
12 highly elevated creatine kinase 31 hallmark (90%) HP:0030234
13 intellectual disability 31 frequent (33%) HP:0001249
14 facial palsy 31 frequent (33%) HP:0010628
15 macroglossia 31 frequent (33%) HP:0000158
16 flexion contracture 31 frequent (33%) HP:0001371
17 emg abnormality 31 frequent (33%) HP:0003457
18 cerebral edema 31 frequent (33%) HP:0002181
19 astrocytosis 31 frequent (33%) HP:0002446
20 recurrent lower respiratory tract infections 31 frequent (33%) HP:0002783
21 aspiration 31 frequent (33%) HP:0002835
22 impaired mastication 31 frequent (33%) HP:0005216
23 abnormality of the temporomandibular joint 31 frequent (33%) HP:0010754
24 abnormal brainstem mri signal intensity 31 frequent (33%) HP:0012747
25 scoliosis 31 occasional (7.5%) HP:0002650
26 dysphagia 31 occasional (7.5%) HP:0002015
27 hyperlordosis 31 occasional (7.5%) HP:0003307
28 neonatal hypotonia 31 occasional (7.5%) HP:0001319
29 abnormality of visual evoked potentials 31 occasional (7.5%) HP:0000649
30 cognitive impairment 31 occasional (7.5%) HP:0100543
31 arrhythmia 31 occasional (7.5%) HP:0011675
32 open mouth 31 occasional (7.5%) HP:0000194
33 cardiomyopathy 31 occasional (7.5%) HP:0001638
34 reduced tendon reflexes 31 occasional (7.5%) HP:0001315
35 absence seizure 31 occasional (7.5%) HP:0002121
36 focal-onset seizure 31 occasional (7.5%) HP:0007359
37 protruding tongue 31 occasional (7.5%) HP:0010808
38 atelectasis 31 occasional (7.5%) HP:0100750
39 decreased body weight 31 occasional (7.5%) HP:0004325
40 pachygyria 31 occasional (7.5%) HP:0001302
41 myopathic facies 31 occasional (7.5%) HP:0002058
42 hypoventilation 31 occasional (7.5%) HP:0002791
43 intercostal muscle weakness 31 occasional (7.5%) HP:0004878
44 pontocerebellar atrophy 31 occasional (7.5%) HP:0006879
45 sensorimotor neuropathy 31 occasional (7.5%) HP:0007141
46 reduced ejection fraction 31 occasional (7.5%) HP:0012664
47 pulmonary arterial hypertension 31 very rare (1%) HP:0002092

Drugs & Therapeutics for Lama2-Related Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscular Dystrophy (CMD) and the Feasibility of Hyperinsufflation Therapy to Slow Rate of Decline in Lung Volume Completed NCT01836627
2 A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation Withdrawn NCT01952028

Search NIH Clinical Center for Lama2-Related Muscular Dystrophy

Genetic Tests for Lama2-Related Muscular Dystrophy

Anatomical Context for Lama2-Related Muscular Dystrophy

MalaCards organs/tissues related to Lama2-Related Muscular Dystrophy:

40
Skeletal Muscle, Eye, Lung, Tongue, Heart, Brain, T Cells

Publications for Lama2-Related Muscular Dystrophy

Articles related to Lama2-Related Muscular Dystrophy:

(show top 50) (show all 159)
# Title Authors PMID Year
1
Clinical and pathological heterogeneity in late-onset partial merosin deficiency. 61 24
21922472 2011
2
Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. 61 24
21441569 2011
3
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 61 24
20207543 2010
4
Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency. 61 24
19759319 2009
5
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. 61 24
18406646 2009
6
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 61 24
18700894 2008
7
The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy. 61 24
17438294 2007
8
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. 61 24
17949279 2007
9
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. 61 24
16084089 2005
10
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). 61 24
11938437 2002
11
Orthognathic surgery and partial glossectomy in a patient with merosin-deficient congenital muscular dystrophy. 24
22260916 2012
12
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype? 24
22006699 2011
13
A dystroglycan mutation associated with limb-girdle muscular dystrophy. 24
21388311 2011
14
Consensus statement on standard of care for congenital muscular dystrophies. 24
21078917 2010
15
Congenital muscular dystrophies with cognitive impairment. A population study. 24
20820001 2010
16
The short-term effects of intermittent positive pressure breathing treatments on ventilation in patients with neuromuscular disease. 24
20587098 2010
17
Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy. 24
19086074 2009
18
Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes. 24
18074402 2008
19
Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain. 24
17690079 2007
20
Respiratory function assessment and intervention in neuromuscular disorders. 24
16155437 2005
21
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. 24
16216942 2005
22
Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. 24
15862197 2005
23
Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging. 24
15703311 2005
24
Functional sites in the laminin alpha chains. 24
16147852 2005
25
Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy. 24
15578095 2004
26
The congenital muscular dystrophies in 2004: a century of exciting progress. 24
15351421 2004
27
EMG and nerve conduction studies in children with congenital muscular dystrophy. 24
14755496 2004
28
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. 24
14659414 2004
29
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. 24
12661054 2003
30
Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders. 24
12565909 2003
31
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency. 24
12552556 2003
32
Nonmuscular involvement in merosin-negative congenital muscular dystrophy. 24
11814732 2002
33
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. 24
11591858 2001
34
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. 24
11584042 2001
35
Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. 24
11369186 2001
36
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy. 24
11297945 2001
37
The treatment of scoliosis in muscular dystrophy using modified Luque and Harrington-Luque instrumentation. 24
11245532 2001
38
Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. 24
10677857 2000
39
Feeding problems in merosin deficient congenital muscular dystrophy. 24
10332004 1999
40
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. 24
10220862 1999
41
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. 24
9829280 1998
42
Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. 24
9736139 1998
43
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. 24
9674786 1998
44
Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy. 24
9650678 1998
45
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. 24
9541105 1998
46
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain. 24
9185180 1997
47
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. 24
8879653 1996
48
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. 24
8786062 1996
49
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. 24
7501163 1995
50
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. 61
31929873 2020

Variations for Lama2-Related Muscular Dystrophy

Expression for Lama2-Related Muscular Dystrophy

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

Pathways for Lama2-Related Muscular Dystrophy

Pathways related to Lama2-Related Muscular Dystrophy according to KEGG:

36
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512

GO Terms for Lama2-Related Muscular Dystrophy

Sources for Lama2-Related Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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