MCID: RGD004
MIFTS: 19

Rigid Spine Muscular Dystrophy

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

Aliases & Classifications for Rigid Spine Muscular Dystrophy

MalaCards integrated aliases for Rigid Spine Muscular Dystrophy:

Name: Rigid Spine Muscular Dystrophy 26
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity 26
Congenital Muscular Dystrophy with Spine Rigidity Syndrome 26
Congenital Muscular Dystrophy with Rigid Spine 6
Rigid Spine Congenital Muscular Dystrophy 26
Dystrophy, Muscular, Rigid Spine 41
Rigid Spinal Muscular Dystrophy 26
Rsmd 26

Classifications:



Summaries for Rigid Spine Muscular Dystrophy

Genetics Home Reference : 26 Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems.

MalaCards based summary : Rigid Spine Muscular Dystrophy, also known as muscular dystrophy, congenital, merosin-positive, with early spine rigidity, is related to muscular dystrophy and muscular dystrophy, congenital, lmna-related. An important gene associated with Rigid Spine Muscular Dystrophy is SELENON (Selenoprotein N). Related phenotype is Synthetic lethal with vaccinia virus (VACV) infection.

Related Diseases for Rigid Spine Muscular Dystrophy

Diseases in the Rigid Spine Muscular Dystrophy family:

Rigid Spine Muscular Dystrophy 1

Diseases related to Rigid Spine Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 30.2 LMNA SELENON
2 muscular dystrophy, congenital, lmna-related 30.2 LMNA SELENON
3 congenital fiber-type disproportion 29.6 LMNA SELENON
4 rigid spine muscular dystrophy 1 12.9
5 hutchinson-gilford progeria syndrome 10.1
6 mandibuloacral dysplasia with type a lipodystrophy 10.1
7 adrenomyodystrophy 10.1
8 multiminicore disease 10.1
9 bethlem myopathy 1 9.7 LMNA SELENON
10 muscular disease 9.7 LMNA SELENON

Graphical network of the top 20 diseases related to Rigid Spine Muscular Dystrophy:



Diseases related to Rigid Spine Muscular Dystrophy

Symptoms & Phenotypes for Rigid Spine Muscular Dystrophy

GenomeRNAi Phenotypes related to Rigid Spine Muscular Dystrophy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.62 LMNA SELENON

Drugs & Therapeutics for Rigid Spine Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Rigid Spine Muscular Dystrophy

Genetic Tests for Rigid Spine Muscular Dystrophy

Anatomical Context for Rigid Spine Muscular Dystrophy

Publications for Rigid Spine Muscular Dystrophy

Articles related to Rigid Spine Muscular Dystrophy:

(show all 11)
# Title Authors Year
1
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report. ( 30642275 )
2019
2
SEPN1-related Rigid Spine Muscular Dystrophy. ( 29850975 )
2018
3
Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1. ( 27863379 )
2016
4
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. ( 25182138 )
2015
5
Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon. ( 18025044 )
2008
6
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. ( 18348272 )
2008
7
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. ( 15668457 )
2005
8
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. ( 12192640 )
2002
9
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). ( 12207930 )
2002
10
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. ( 10665485 )
2000
11
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. ( 10545040 )
1999

Variations for Rigid Spine Muscular Dystrophy

ClinVar genetic disease variations for Rigid Spine Muscular Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTA1 NM_001100.3(ACTA1): c.460G> C (p.Val154Leu) single nucleotide variant Likely pathogenic rs768144106 GRCh38 Chromosome 1, 229432426: 229432426
2 ACTA1 NM_001100.3(ACTA1): c.460G> C (p.Val154Leu) single nucleotide variant Likely pathogenic rs768144106 GRCh37 Chromosome 1, 229568173: 229568173

Expression for Rigid Spine Muscular Dystrophy

Search GEO for disease gene expression data for Rigid Spine Muscular Dystrophy.

Pathways for Rigid Spine Muscular Dystrophy

GO Terms for Rigid Spine Muscular Dystrophy

Sources for Rigid Spine Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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