Rigid Spine Muscular Dystrophy (RSMD)

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

Aliases & Classifications for Rigid Spine Muscular Dystrophy

MalaCards integrated aliases for Rigid Spine Muscular Dystrophy:

Name: Rigid Spine Muscular Dystrophy 43
Muscular Dystrophy, Congenital, Merosin-Positive, with Early Spine Rigidity 43
Congenital Muscular Dystrophy with Spine Rigidity Syndrome 43
Congenital Muscular Dystrophy with Rigid Spine 6
Rigid Spine Congenital Muscular Dystrophy 43
Dystrophy, Muscular, Rigid Spine 39
Rigid Spinal Muscular Dystrophy 43
Rsmd 43


Summaries for Rigid Spine Muscular Dystrophy

MedlinePlus Genetics : 43 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.In RSMD, muscle weakness is often apparent at birth or within the first few months of life. Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. Over time, muscles surrounding the spine atrophy, and the joints of the spine develop deformities called contractures that restrict movement. The neck and back become stiff and rigid, and affected children have limited ability to move their heads up and down or side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people with RSMD, muscles in the inner thighs also atrophy, although it does not impair the ability to walk.A characteristic feature of RSMD is breathing difficulty (respiratory insufficiency) due to restricted movement of the torso and weakness of the diaphragm, which is the muscle that separates the abdomen from the chest cavity. The breathing problems, which tend to occur only at night, can be life-threatening. Many affected individuals require a machine to help them breathe (mechanical ventilation) during sleep.The combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders.

MalaCards based summary : Rigid Spine Muscular Dystrophy, also known as muscular dystrophy, congenital, merosin-positive, with early spine rigidity, is related to rigid spine muscular dystrophy 1 and myopathy, congenital, with fiber-type disproportion. An important gene associated with Rigid Spine Muscular Dystrophy is SELENON (Selenoprotein N), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Cytoskeletal Signaling. Related phenotype is muscle.

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:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 rigid spine muscular dystrophy 1 32.1 SELENON LMNA ACTA1
2 myopathy, congenital, with fiber-type disproportion 30.2 SELENON ACTA1
3 muscular dystrophy 30.0 SELENON LMNA ACTA1
4 batten-turner congenital myopathy 30.0 SELENON ACTA1
5 respiratory failure 29.8 SELENON ACTA1
6 congenital fiber-type disproportion 29.6 SELENON LMNA ACTA1
7 myopathy 29.6 SELENON LMNA ACTA1
8 muscular dystrophy, congenital, lmna-related 29.4 SELENON LMNA ACTA1
9 scoliosis 10.3
10 emery-dreifuss muscular dystrophy 10.2
11 nemaline myopathy 10.2
12 hypotonia 10.2
13 autosomal recessive disease 10.2
14 hutchinson-gilford progeria syndrome 10.1
15 mandibuloacral dysplasia with type a lipodystrophy 10.1
16 adrenomyodystrophy 10.1
17 muscular atrophy 10.1
18 multiminicore disease 10.1
19 mycobacterium tuberculosis 1 10.0
20 hyaline body myopathy 9.9 SELENON ACTA1
21 congenital structural myopathy 9.9 SELENON ACTA1
22 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.9 SELENON ACTA1
23 centronuclear myopathy 9.8 SELENON ACTA1
24 muscular dystrophy, congenital merosin-deficient, 1a 9.7 SELENON LMNA
25 myopathy, myofibrillar, 1 9.7 SELENON LMNA
26 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.7 SELENON LMNA
27 isolated elevated serum creatine phosphokinase levels 9.7 SELENON LMNA
28 ullrich congenital muscular dystrophy 1 9.7 SELENON LMNA
29 bethlem myopathy 1 9.7 SELENON LMNA
30 restrictive cardiomyopathy 9.6 LMNA ACTA1
31 muscle tissue disease 9.6 SELENON LMNA
32 walker-warburg syndrome 9.5 SELENON LMNA
33 myofibrillar myopathy 9.5 SELENON LMNA ACTA1
34 neuromuscular disease 9.5 SELENON LMNA ACTA1
35 congenital myasthenic syndrome 9.5 SELENON LMNA ACTA1

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

MGI Mouse Phenotypes related to Rigid Spine Muscular Dystrophy:

# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ACTA1 LMNA SELENON

Drugs & Therapeutics for Rigid Spine Muscular Dystrophy

Search Clinical Trials , 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 50)
# Title Authors PMID Year
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
Trade-off between soil moisture and species diversity in semi-arid steppes in the Loess Plateau of China. 61
32866748 2021
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes. 61
32864802 2020
What is the relationship between body mass index and eating disorder symptomatology in professional female fashion models? 61
32798930 2020
Comparison of Multiple Quantitative Evaluation Indices of Theoretical Knowledge and Clinical Practice Skills and Training of Medical Interns in Cardiovascular Imaging Using Blended Teaching and the Case Resource Network Platform (CRNP). 61
32297597 2020
Artificial intelligence in bone age assessment: accuracy and efficiency of a novel fully automated algorithm compared to the Greulich-Pyle method. 61
31993795 2020
Molecular modelling and competitive inhibition of a Mycobacterium tuberculosis multidrug-resistance efflux pump. 61
30529931 2019
A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report. 61
30642275 2019
SEPN1-related Rigid Spine Muscular Dystrophy. 61
29850975 2018
Detailed potential of mean force studies on host-guest systems from the SAMPL6 challenge. 61
30143917 2018
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms in IL8 gene. 61
28747718 2017
Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1. 61
27863379 2016
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. 61
27671536 2016
Defining the medial-lateral axis of an anatomical femur coordinate system using freehand 3D ultrasound imaging. 61
26979908 2016
Immunological evaluation of an rsmD-like rRNA methyltransferase from Wolbachia endosymbiont of Brugia malayi. 61
26851594 2016
Rapid sampling microdialysis as a novel tool for parenchyma assessment during static cold storage and hypothermic machine perfusion in a translational ex vivo porcine kidney model. 61
26323367 2016
16S rRNA methyltransferase KsgA contributes to oxidative stress resistance and virulence in Staphylococcus aureus. 61
26545800 2015
Induced tigecycline resistance in Streptococcus pneumoniae mutants reveals mutations in ribosomal proteins and rRNA. 61
26183184 2015
RSMD-repeat searcher and motif detector. 61
25332714 2014
Methyl-methoxylpyrrolinone and flavinium nucleus binding signatures on falcipain-2 active site. 61
25096811 2014
Modified nucleotides m(2)G966/m(5)C967 of Escherichia coli 16S rRNA are required for attenuation of tryptophan operon. 61
24241179 2013
Molecular characterization of an rsmD-like rRNA methyltransferase from the Wolbachia endosymbiont of Brugia malayi and antifilarial activity of specific inhibitors of the enzyme. 61
23733469 2013
Role of the ribosomal P-site elements of m²G966, m⁵C967, and the S9 C-terminal tail in maintenance of the reading frame during translational elongation in Escherichia coli. 61
23729652 2013
Distinctive contributions of the ribosomal P-site elements m2G966, m5C967 and the C-terminal tail of the S9 protein in the fidelity of initiation of translation in Escherichia coli. 61
23530111 2013
Continuous online microdialysis using microfluidic sensors: dynamic neurometabolic changes during spreading depolarization. 61
23574576 2013
Online rapid sampling microdialysis (rsMD) using enzyme-based electroanalysis for dynamic detection of ischaemia during free flap reconstructive surgery. 61
23435450 2013
Properties of small rRNA methyltransferase RsmD: mutational and kinetic study. 61
22535590 2012
In silico study of fucoxanthin as a tumor cytotoxic agent. 61
22368399 2012
Structural and functional characterization of Rv2966c protein reveals an RsmD-like methyltransferase from Mycobacterium tuberculosis and the role of its N-terminal domain in target recognition. 61
21474448 2011
Enhanced CO2 fixation by a non-photosynthetic microbial community under anaerobic conditions: optimization of electron donors. 61
21115242 2011
Optimization of electron donors to improve CO2 fixation efficiency by a non-photosynthetic microbial community under aerobic condition using statistical experimental design. 61
20409701 2010
Persisting depletion of brain glucose following cortical spreading depression, despite apparent hyperaemia: evidence for risk of an adverse effect of Leão's spreading depression. 61
18813306 2009
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 61
17951086 2008
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. 61
18348272 2008
Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon. 61
18025044 2008
Methyltransferase that modifies guanine 966 of the 16 S rRNA: functional identification and tertiary structure. 61
17189261 2007
Ribosomal RNA guanine-(N2)-methyltransferases and their targets. 61
17389639 2007
Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine. 61
16900928 2006
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. 61
16498447 2006
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). 61
15792869 2005
Transient changes in cortical glucose and lactate levels associated with peri-infarct depolarisations, studied with rapid-sampling microdialysis. 61
15716860 2005
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 61
15668457 2005
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. 61
15122708 2004
Sequence-structure-function relationships of Tgs1, the yeast snRNA/snoRNA cap hypermethylase. 61
12907733 2003
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern. 61
12700173 2003
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. 61
12192640 2002
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). 61
12207930 2002
RNA:(guanine-N2) methyltransferases RsmC/RsmD and their homologs revisited--bioinformatic analysis and prediction of the active site based on the uncharacterized Mj0882 protein structure. 61
11929612 2002
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 61
11528383 2001
Two models of the influenza A M2 channel domain: verification by comparison. 61
9889158 1998

Variations for Rigid Spine Muscular Dystrophy

ClinVar genetic disease variations for Rigid Spine Muscular Dystrophy:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTA1 NM_001100.3(ACTA1):c.460G>C (p.Val154Leu) SNV Likely pathogenic 224666 rs768144106 GRCh37: 1:229568173-229568173
GRCh38: 1:229432426-229432426

Expression for Rigid Spine Muscular Dystrophy

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

Pathways for Rigid Spine Muscular Dystrophy

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

# Super pathways Score Top Affiliating Genes
Show member pathways
11.75 LMNA ACTA1
2 11.44 LMNA ACTA1
Show member pathways
10.88 LMNA ACTA1

GO Terms for Rigid Spine Muscular Dystrophy

Biological processes related to Rigid Spine Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal muscle fiber development GO:0048741 8.62 SELENON ACTA1

Sources for Rigid Spine Muscular Dystrophy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
Loading form....