MCID: MSC029
MIFTS: 19

Muscular Dystrophy, Congenital, Merosin-Positive

Categories: Rare diseases, Muscle 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 53 13
Congenital Muscular Dystrophy Merosin-Positive 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
muscular dystrophy, congenital, merosin-positive:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy, Congenital, Merosin-Positive

NIH Rare Diseases : 53 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 genemutations, 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 featuresRigid 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. An important gene associated with Muscular Dystrophy, Congenital, Merosin-Positive is MDCMP (Muscular Dystrophy, Congenital, Merosin-Positive). Affiliated tissues include brain and eye, and related phenotypes are neck muscle weakness and neonatal hypotonia

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.

Description 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 11.6

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

Symptoms via clinical synopsis from OMIM:

57
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
delayed walking
muscle biopsy shows myopathic changes
muscle biopsy shows dystrophic changes
increased variation in fiber size
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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 neck muscle weakness 32 HP:0000467
2 neonatal hypotonia 32 HP:0001319
3 flexion contracture 32 HP:0001371
4 joint laxity 32 HP:0001388
5 decreased fetal movement 32 HP:0001558
6 scoliosis 32 HP:0002650
7 respiratory insufficiency due to muscle weakness 32 HP:0002747
8 myopathy 32 HP:0003198
9 shoulder girdle muscle weakness 32 HP:0003547
10 increased variability in muscle fiber diameter 32 HP:0003557
11 proximal muscle weakness 32 HP:0003701
12 congenital muscular dystrophy 32 HP:0003741
13 mildly elevated creatine phosphokinase 32 HP:0008180
14 facial palsy 32 HP:0010628

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:

41
Brain, Eye

Publications for Muscular Dystrophy, Congenital, Merosin-Positive

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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