MCID: SCP002
MIFTS: 29

Scapuloperoneal Spinal Muscular Atrophy

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

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

MalaCards integrated aliases for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 54 50 24 56 71 29 13
Spsma 50 24 56 71
Neurogenic Scapuloperoneal Amyotrophy, New England Type 24 56
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 50
Amyotrophy Neurogenic Scapuloperoneal New England Type 71
Scapuloperoneal Form of Spinal Muscular Atrophy 69
Scapuloperoneal Neuronopathy 56

Characteristics:

Orphanet epidemiological data:

56
scapuloperoneal spinal muscular atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive or slowly progressive
incomplete penetrance
onset at birth or in infancy


HPO:

32
scapuloperoneal spinal muscular atrophy:
Onset and clinical course incomplete penetrance
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot : 71 Scapuloperoneal spinal muscular atrophy: A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy.

MalaCards based summary : Scapuloperoneal Spinal Muscular Atrophy, also known as spsma, is related to spinal muscular atrophy and muscular atrophy, and has symptoms including scoliosis, distal sensory impairment and torticollis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

Description from OMIM: 181405

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

Diseases related to Scapuloperoneal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 10.3
2 muscular atrophy 10.3
3 cardiomyopathy 10.0
4 mitochondrial cardiomyopathy 10.0

Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
facial weakness

Neurologic- Central Nervous System:
delayed motor development
wide-based gait

Neurologic- Peripheral Nervous System:
hyporeflexia
areflexia
peripheral motor neuropathy
decreased distal sensation (less common)

Skeletal- Feet:
club feet
metatarsus varus

Chest- Ribs Sternum Clavicles And Scapulae:
scapular winging
laterally placed scapulae

Chest- Diaphragm:
diaphragmatic weakness

Respiratory:
respiratory insufficiency in infancy
respiratory stridor in infancy

Chest- External Features:
rounded shoulders due to muscle atrophy

Voice:
hoarse voice due to laryngeal palsy

Skeletal- Spine:
scoliosis
kyphosis
hyperlordosis

Head And Neck- Neck:
torticollis
weak neck flexion

Muscle Soft Tissue:
gowers sign
fiber splitting
scapular muscle weakness
fatty replacement
amyotrophy, neurogenic
more
Skeletal- Hands:
small hands
clinodactyly

Skeletal- Pelvis:
hip dysplasia

Head And Neck- Eyes:
abducens palsy

Respiratory- Larynx:
laryngeal palsy

Skeletal- Limbs:
asymmetric limb length (less common)


Clinical features from OMIM:

181405

Human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

32 (show all 29)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 distal sensory impairment 32 occasional (7.5%) HP:0002936
3 torticollis 32 HP:0000473
4 hyporeflexia 32 HP:0001265
5 kyphosis 32 HP:0002808
6 gowers sign 32 HP:0003391
7 talipes equinovarus 32 HP:0001762
8 areflexia 32 HP:0001284
9 clinodactyly 32 HP:0030084
10 motor delay 32 HP:0001270
11 scapular winging 32 HP:0003691
12 broad-based gait 32 HP:0002136
13 spinal muscular atrophy 32 HP:0007269
14 hyperlordosis 32 HP:0003307
15 metatarsus adductus 32 HP:0001840
16 hip dysplasia 32 HP:0001385
17 facial palsy 32 HP:0010628
18 diaphragmatic weakness 32 HP:0009113
19 abducens palsy 32 HP:0011349
20 scapular muscle atrophy 32 HP:0009060
21 peroneal muscle weakness 32 HP:0011727
22 peroneal muscle atrophy 32 HP:0009049
23 small hand 32 HP:0200055
24 muscle fiber splitting 32 HP:0003555
25 progressive distal muscular atrophy 32 HP:0008955
26 motor polyneuropathy 32 HP:0007178
27 amyoplasia 32 HP:0003634
28 scapuloperoneal amyotrophy 32 HP:0003697
29 progressive distal muscle weakness 32 HP:0009063

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:


torticollis, facial paresis

Drugs & Therapeutics for Scapuloperoneal Spinal Muscular Atrophy

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Spinal Muscular Atrophy

Genetic Tests for Scapuloperoneal Spinal Muscular Atrophy

Genetic tests related to Scapuloperoneal Spinal Muscular Atrophy:

id Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy 29 24 TRPV4

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

Publications for Scapuloperoneal Spinal Muscular Atrophy

Articles related to Scapuloperoneal Spinal Muscular Atrophy:

id Title Authors Year
1
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. ( 26948711 )
2016
2
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )
2010
3
Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation. ( 9187660 )
1997
4
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. ( 8872481 )
1996
5
Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. ( 7693085 )
1993

Variations for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

71
id Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg316Cys VAR_063530 rs267607145

ClinVar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
2 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
3 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471

Expression for Scapuloperoneal Spinal Muscular Atrophy

Search GEO for disease gene expression data for Scapuloperoneal Spinal Muscular Atrophy.

Pathways for Scapuloperoneal Spinal Muscular Atrophy

GO Terms for Scapuloperoneal Spinal Muscular Atrophy

Sources for Scapuloperoneal Spinal Muscular Atrophy

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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