MCID: MSC051
MIFTS: 45

Muscular Dystrophy, Rigid Spine, 1

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

Aliases & Classifications for Muscular Dystrophy, Rigid Spine, 1

MalaCards integrated aliases for Muscular Dystrophy, Rigid Spine, 1:

Name: Muscular Dystrophy, Rigid Spine, 1 54 13
Rigid Spine Syndrome 12 50 56 71 52 42
Rss 12 50 71 3
Eichsfeld Type Congenital Muscular Dystrophy 12 29 69
Rigid Spine Muscular Dystrophy 1 12 71 14
Mdrs1 12 50 71
Rsmd1 12 50 71
Congenital Merosin-Positive Muscular Dystrophy with Early Spine Rigidity 12 71
Desmin-Related Myopathy with Mallory Body-Like Inclusions 12 56
Desmin-Related Myopathy with Mallory Bodies 12 71
Early-Onset Desmin-Related Myopathy 12 56
Classic Multiminicore Myopathy 12 56
Classic Multiminicore Disease 12 56
Sepn1-Related Myopathy 12 71
Classic Mmd 12 56
Muscular Dystrophy, Congenital, Merosin Positive with Early Spine Rigidity 50
Congenital Muscular Dystrophy Merosin-Positive with Early Spine Rigidity 71
Desmin-Related Myopathies with Mallory Bodies 50
Congenital Muscular Dystrophy Eichsfeld Type 71
Multiminicore Disease, Severe Classic Form 50
Severe Classic Form Multiminicore Disease 12
Rigid Spine Congenital Muscular Dystrophy 56
Multiminicore Disease Severe Classic Form 71
Multicore Myopathy, Severe Classic Form 50
Severe Classic Form Multicore Myopathy 12
Minicore Myopathy, Severe Classic Form 50
Multicore Myopathy Severe Classic Form 71
Severe Classic Form Minicore Myopathy 12
Minicore Myopathy Severe Classic Form 71
Rigid Spine Muscular Dystrophy-1 50

Characteristics:

Orphanet epidemiological data:

56
rigid spine syndrome
Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
nonprogressive or slowly progressive
cause of death usually due to respiratory failure before adulthood


HPO:

32
muscular dystrophy, rigid spine, 1:
Onset and clinical course infantile onset nonprogressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Muscular Dystrophy, Rigid Spine, 1

Disease Ontology : 12 A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has material basis in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36.

MalaCards based summary : Muscular Dystrophy, Rigid Spine, 1, also known as rigid spine syndrome, is related to silver-russell syndrome and robinow-sorauf syndrome, and has symptoms including short stature, failure to thrive and poor head control. An important gene associated with Muscular Dystrophy, Rigid Spine, 1 is SELENON (Selenoprotein N), and among its related pathways/superpathways are Striated Muscle Contraction and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include testes, and related phenotype is muscle.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on congenital muscular dystrophy and muscular dystrophy, congenital, merosin-positive.

UniProtKB/Swiss-Prot : 71 Rigid spine muscular dystrophy 1: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.

OMIM : 54
Desmin-related myopathies (DRM) are a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin (DES; 125660), usually accompanied by other protein aggregates. Approximately one-third of DRM are caused by mutations in the desmin gene (Ferreiro et al., 2004). For other forms of DRM, see primary desminopathy (601419). (602771)

Related Diseases for Muscular Dystrophy, Rigid Spine, 1

Diseases related to Muscular Dystrophy, Rigid Spine, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 12.1
2 robinow-sorauf syndrome 11.4
3 reducing body myopathy 11.1
4 selenon-related multiminicore disease 10.8
5 selenon-related myopathy 10.8
6 hemiplegia alterans 10.7 ACTA1 FHL1
7 myopathy, congenital, with fiber-type disproportion 10.7 ACTA1 MYH7 SELENON
8 autosomal recessive nonsyndromic deafness 3 10.7 DMD LAMA2
9 lopes gorlin syndrome 10.7 DMD DYSF
10 muscular dystrophy, congenital, 1b 10.7 DMD LAMA2
11 cataract 16, multiple types 10.7 ACTA1 DMD MYH7
12 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.6 DMD MYH7 TTN
13 dowling-degos disease 10.6 ACTA1 FHL1 MYH7
14 properdin deficiency 10.6 DMD FHL1
15 congenital myopathy 10.6 DMD FHL1 TTN
16 autoimmune disease of skin and connective tissue 10.6 DMD MYH7 TTN
17 cubitus valgus with mental retardation and unusual facies 10.6 DMD GAA LAMA2
18 epilepsy, partial, with pericentral spikes 10.6 SECISBP2 SELENON
19 myelodysplastic myeloproliferative cancer 10.6 COL6A2 SELENON TTN
20 cerebellar ataxia and hypogonadotropic hypogonadism 10.5 DMD LAMA2
21 pulmonary hypertension, primary, 2 10.5 DMD DYSF
22 charcot-marie-tooth disease, type 2b2 10.5 DYSF LAMA2 TTN
23 cylindrical spirals myopathy 10.5 ACTA1 DMD MYH7 SELENON
24 scn1b-related generalized epilepsy with febrile seizures plus 10.5 DMD DYSF
25 parametrium malignant neoplasm 10.5 DMD FHL1 LAMA2
26 craniofrontonasal dysplasia 10.5 DMD DYSF LAMA2
27 anogenital venereal wart 10.5 GAA LAMA2 SELENON TTN
28 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.4 DYSF TTN
29 spongiotic dermatitis 10.4 DMD GAA LAMA2 TTN
30 adult intracranial malignant hemangiopericytoma 10.4 DMD DYSF TTN
31 adrenal carcinoma 10.4 ANO5 DYSF
32 spastic paraplegia 46, autosomal recessive 10.4 RSPH1 RSPH3 RSPH4A
33 uterine corpus endometrial stromal sarcoma 10.4 ACTA1 SELENON
34 long qt syndrome 9 10.4 FHL1 GAA MYH7 TTN
35 metaphyseal chondrodysplasia, murk jansen type 10.4 DYSF TTN
36 miyoshi muscular dystrophy 3 10.3 ANO5 DYSF
37 keratoconus 10.3 RSPH1 RSPH3 RSPH4A
38 dystonia 27 10.3 COL6A2 FKBP14 LAMA2 SELENON
39 ullrich congenital muscular dystrophy 1 10.3 COL6A2 DMD DYSF SELENON
40 microcephaly and chorioretinopathy 1 10.2 ACTA1 DMD DYSF MYH7 SELENON
41 peroxisomal biogenesis disorders 10.2 MYH7 TTN
42 casr-related disorders 10.2 DMD GAA LAMA2 MYH7 TTN
43 autosomal recessive limb-girdle muscular dystrophy type 2e 10.1 ANO5 DMD DYSF TTN
44 peeling skin syndrome 2 10.1 ANO5 DMD DYSF TTN
45 myopathy 10.1
46 eosinophilic variant of chromophobe renal cell carcinoma 10.1 ANO5 DMD DYSF LAMA2
47 lyme disease 10.0 ANO5 DMD DYSF MYH7 TTN
48 muscular dystrophy 9.9
49 muscular dystrophy, congenital 9.6 COL6A2 DMD FKBP14 LAMA2 MDCMP SELENON
50 periodontosis 8.6 ANO5 COL6A2 DMD DYSF FHL1 LAMA2

Graphical network of the top 20 diseases related to Muscular Dystrophy, Rigid Spine, 1:



Diseases related to Muscular Dystrophy, Rigid Spine, 1

Symptoms & Phenotypes for Muscular Dystrophy, Rigid Spine, 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Growth- Other:
failure to thrive

Head And Neck- Head:
poor head control

Head And Neck- Mouth:
high-arched palate

Respiratory:
restrictive respiratory syndrome
reduced vital capacity
nocturnal hypoventilation

Skeletal:
joint contractures

Neurologic- Central Nervous System:
delayed motor development

Growth- Weight:
low body weight

Muscle Soft Tissue:
poor head control
axial muscle weakness
muscle weakness, diffuse
hypotonia
generalized muscle atrophy
more
Head And Neck- Face:
facial weakness

Head And Neck- Neck:
limited neck flexion

Chest- External Features:
flat thorax

Skeletal- Spine:
spinal rigidity
scoliosis
limited flexion

Voice:
nasal, high-pitched voice


Clinical features from OMIM:

602771

Human phenotypes related to Muscular Dystrophy, Rigid Spine, 1:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 poor head control 32 HP:0002421
4 limited neck flexion 32 HP:0005991
5 reduced vital capacity 32 HP:0002792
6 nocturnal hypoventilation 32 HP:0002877
7 spinal rigidity 32 HP:0003306
8 scoliosis 32 HP:0002650
9 axial muscle weakness 32 HP:0003327
10 muscular dystrophy 32 HP:0003560
11 motor delay 32 HP:0001270
12 generalized amyotrophy 32 HP:0003700
13 high palate 32 HP:0000218
14 muscular hypotonia 32 HP:0001252
15 nasal speech 32 HP:0001611
16 generalized muscle weakness 32 HP:0003324
17 high pitched voice 32 HP:0001620
18 facial palsy 32 HP:0010628
19 flexion contracture 32 HP:0001371
20 increased variability in muscle fiber diameter 32 HP:0003557
21 abnormality of the rib cage 32 HP:0001547
22 restrictive deficit on pulmonary function testing 32 HP:0002111
23 type 1 and type 2 muscle fiber minicore regions 32 HP:0003787

UMLS symptoms related to Muscular Dystrophy, Rigid Spine, 1:


facial paresis, generalized muscle weakness

MGI Mouse Phenotypes related to Muscular Dystrophy, Rigid Spine, 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 ACTA1 DMD DYSF FHL1 GAA LAMA2

Drugs & Therapeutics for Muscular Dystrophy, Rigid Spine, 1

Interventional clinical trials:


id 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 Muscular Dystrophy, Rigid Spine, 1

Cochrane evidence based reviews: rigid spine syndrome

Genetic Tests for Muscular Dystrophy, Rigid Spine, 1

Genetic tests related to Muscular Dystrophy, Rigid Spine, 1:

id Genetic test Affiliating Genes
1 Eichsfeld Type Congenital Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy, Rigid Spine, 1

MalaCards organs/tissues related to Muscular Dystrophy, Rigid Spine, 1:

39
Testes

Publications for Muscular Dystrophy, Rigid Spine, 1

Variations for Muscular Dystrophy, Rigid Spine, 1

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Rigid Spine, 1:

71
id Symbol AA change Variation ID SNP ID
1 SELENON p.Gly273Glu VAR_019635 rs121908182
2 SELENON p.His293Arg VAR_019636 rs776738184
3 SELENON p.Gly315Ser VAR_019637 rs121908188
4 SELENON p.Asn340Ile VAR_019638 rs749911126
5 SELENON p.Trp453Ser VAR_019639 rs121908186
6 SELENON p.Sec462Gly VAR_019640 rs121908187
7 SELENON p.Arg466Gln VAR_019641 rs121908185
8 SELENON p.Gly463Val VAR_058462
9 SELENON p.Arg469Gln VAR_058463
10 SELENON p.Arg469Trp VAR_058464 rs756927098

ClinVar genetic disease variations for Muscular Dystrophy, Rigid Spine, 1:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 SELENON NM_020451.2(SELENON): c.818G> A (p.Gly273Glu) single nucleotide variant Pathogenic rs121908182 GRCh37 Chromosome 1, 26135587: 26135587
2 SELENON NM_020451.2(SEPN1): c.1385G> A (p.Sec462=) single nucleotide variant Pathogenic rs587776597 GRCh37 Chromosome 1, 26139281: 26139281
3 SELENON NM_020451.2(SELENON): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs121908184 GRCh37 Chromosome 1, 26126722: 26126722
4 SELENON NM_020451.2(SELENON): c.1397G> A (p.Arg466Gln) single nucleotide variant Pathogenic rs121908185 GRCh37 Chromosome 1, 26140381: 26140381
5 SELENON NM_020451.2(SELENON): c.1358G> C (p.Trp453Ser) single nucleotide variant Pathogenic rs121908186 GRCh37 Chromosome 1, 26139254: 26139254
6 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
7 SELENON NM_020451.2(SELENON): c.1384T> G (p.Sec462Gly) single nucleotide variant Pathogenic rs121908187 GRCh37 Chromosome 1, 26139280: 26139280
8 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
9 SELENON SEPN1, 92-BP DEL deletion Pathogenic
10 SELENON NM_020451.2(SELENON): c.1315C> T (p.Arg439Ter) single nucleotide variant Pathogenic rs377215510 GRCh37 Chromosome 1, 26139211: 26139211
11 SELENON NM_020451.2(SELENON): c.301+1G> T single nucleotide variant Pathogenic rs398124360 GRCh37 Chromosome 1, 26127652: 26127652
12 SELENON NM_020451.2(SELENON): c.44_72dup29 (p.Arg25Alafs) duplication Pathogenic rs797044620 GRCh37 Chromosome 1, 26126765: 26126793
13 SELENON NM_020451.2(SELENON): c.13_22dupCGGCCGGGCC (p.Gln8Profs) duplication Pathogenic rs797044621 GRCh37 Chromosome 1, 26126734: 26126743
14 SELENON NM_020451.2(SELENON): c.872+2T> C single nucleotide variant Pathogenic rs794727808 GRCh37 Chromosome 1, 26135643: 26135643
15 SELENON NM_020451.2(SELENON): c.1096G> T (p.Glu366Ter) single nucleotide variant Pathogenic rs794727976 GRCh37 Chromosome 1, 26138185: 26138185

Expression for Muscular Dystrophy, Rigid Spine, 1

Search GEO for disease gene expression data for Muscular Dystrophy, Rigid Spine, 1.

Pathways for Muscular Dystrophy, Rigid Spine, 1

Pathways related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.99 ACTA1 DMD TTN
2 10.08 ACTA1 DMD LAMA2

GO Terms for Muscular Dystrophy, Rigid Spine, 1

Cellular components related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 muscle myosin complex GO:0005859 9.16 MYH7 TTN
2 Z disc GO:0030018 9.13 DMD MYH7 TTN
3 sarcolemma GO:0042383 8.92 COL6A2 DMD DYSF LAMA2

Biological processes related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.58 DMD FHL1 LAMA2
2 muscle contraction GO:0006936 9.56 ACTA1 DYSF MYH7 TTN
3 muscle cell cellular homeostasis GO:0046716 9.49 DMD GAA
4 regulation of the force of heart contraction GO:0002026 9.48 GAA MYH7
5 axoneme assembly GO:0035082 9.46 RSPH1 RSPH4A
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.43 DMD SELENON
7 skeletal muscle thin filament assembly GO:0030240 9.37 ACTA1 TTN
8 striated muscle contraction GO:0006941 9.33 GAA MYH7 TTN
9 nucleus localization GO:0051647 9.32 DMD PABPC1L
10 cardiac muscle contraction GO:0060048 9.26 DMD GAA MYH7 TTN
11 muscle filament sliding GO:0030049 8.92 ACTA1 DMD MYH7 TTN

Molecular functions related to Muscular Dystrophy, Rigid Spine, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 8.62 ACTA1 DMD

Sources for Muscular Dystrophy, Rigid Spine, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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