MCID: MSC029
MIFTS: 19

Muscular Dystrophy, Congenital, Merosin-Positive

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

Aliases & Classifications for Muscular Dystrophy, Congenital, Merosin-Positive

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Merosin-Positive:

Name: Muscular Dystrophy, Congenital, Merosin-Positive 57 20 13
Congenital Muscular Dystrophy Merosin-Positive 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
most patients remain ambulatory in adulthood
generally static disease course


HPO:

31
muscular dystrophy, congenital, merosin-positive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



Summaries for Muscular Dystrophy, Congenital, Merosin-Positive

GARD : 20 The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities ( Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome ). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. It usually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene ( SEPN1 ) CMD with hyperextensible distal joints ( Ullrich type ) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans.

MalaCards based summary : Muscular Dystrophy, Congenital, Merosin-Positive, also known as congenital muscular dystrophy merosin-positive, is related to rigid spine muscular dystrophy 1 and rigid spine muscular dystrophy. An important gene associated with Muscular Dystrophy, Congenital, Merosin-Positive is MDCMP (Muscular Dystrophy, Congenital, Merosin-Positive). Affiliated tissues include eye, and related phenotypes are scoliosis and facial palsy

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of generalized muscle weakness and hypotonia without arthrogryposis or central nervous system involvement that has material basis in mutation in the chromosome region 4p16.3.

More information from OMIM: 609456

Related Diseases for Muscular Dystrophy, Congenital, Merosin-Positive

Diseases related to Muscular Dystrophy, Congenital, Merosin-Positive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rigid spine muscular dystrophy 1 11.7
2 rigid spine muscular dystrophy 11.4

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Merosin-Positive

Human phenotypes related to Muscular Dystrophy, Congenital, Merosin-Positive:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 facial palsy 31 HP:0010628
3 neonatal hypotonia 31 HP:0001319
4 flexion contracture 31 HP:0001371
5 myopathy 31 HP:0003198
6 respiratory insufficiency due to muscle weakness 31 HP:0002747
7 joint laxity 31 HP:0001388
8 decreased fetal movement 31 HP:0001558
9 mildly elevated creatine kinase 31 HP:0008180
10 congenital muscular dystrophy 31 HP:0003741
11 proximal muscle weakness 31 HP:0003701
12 increased variability in muscle fiber diameter 31 HP:0003557
13 neck muscle weakness 31 HP:0000467
14 shoulder girdle muscle weakness 31 HP:0003547
15 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Neck:
neck muscle weakness, mild to moderate

Muscle Soft Tissue:
neonatal hypotonia
increased variation in fiber size
delayed walking
muscle biopsy shows myopathic changes
muscle biopsy shows dystrophic changes
more
Respiratory:
respiratory muscle weakness

Head And Neck Face:
facial muscle weakness, mild to moderate

Skeletal:
increased joint laxity, mild
contractures may develop later in life

Clinical features from OMIM®:

609456 (Updated 05-Apr-2021)

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Merosin-Positive

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Congenital, Merosin-Positive

Genetic Tests for Muscular Dystrophy, Congenital, Merosin-Positive

Anatomical Context for Muscular Dystrophy, Congenital, Merosin-Positive

MalaCards organs/tissues related to Muscular Dystrophy, Congenital, Merosin-Positive:

40
Eye

Publications for Muscular Dystrophy, Congenital, Merosin-Positive

Articles related to Muscular Dystrophy, Congenital, Merosin-Positive:

# Title Authors PMID Year
1
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3. 57
15886997 2005
2
Merosin-positive congenital muscular dystrophy: a large inbred family. 57
10222457 1999
3
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. 57
9731527 1998
4
A large inbred Palestinian family with two forms of muscular dystrophy. 57
1483054 1992

Variations for Muscular Dystrophy, Congenital, Merosin-Positive

Expression for Muscular Dystrophy, Congenital, Merosin-Positive

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Merosin-Positive.

Pathways for Muscular Dystrophy, Congenital, Merosin-Positive

GO Terms for Muscular Dystrophy, Congenital, Merosin-Positive

Sources for Muscular Dystrophy, Congenital, Merosin-Positive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....