MCID: SCP002
MIFTS: 28

Scapuloperoneal Spinal Muscular Atrophy

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

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

MalaCards integrated aliases for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 53 49 55 71 28 13
Spsma 53 49 55 71
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 53 49
Neurogenic Scapuloperoneal Amyotrophy, New England Type 55
Amyotrophy Neurogenic Scapuloperoneal New England Type 71
Scapuloperoneal Form of Spinal Muscular Atrophy 69
Spinal Muscular Atrophy, Scapuloperoneal 53
Scapuloperoneal Neuronopathy 55

Characteristics:

Orphanet epidemiological data:

55
scapuloperoneal spinal muscular atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
scapuloperoneal spinal muscular atrophy:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance

spinal muscular atrophy, scapuloperoneal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
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 torticollis, clinodactyly and scoliosis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

Description from OMIM: 181405 271220

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

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

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 10.4
2 muscular atrophy 10.4
3 hereditary motor and sensory neuropathy, type iic 10.1

Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Neck:
torticollis
weak neck flexion

Skeletal Spine:
scoliosis
kyphosis
hyperlordosis

Chest RibsSternum Clavicles And Scapulae:
scapular winging
laterally placed scapulae

Chest Diaphragm:
diaphragmatic weakness

Muscle Soft Tissue:
gowers sign
amyotrophy, neurogenic
scapular muscle weakness
scapular muscle atrophy
absence of some scapular muscles (less common)
more
Skeletal Feet:
metatarsus varus
club feet

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 Hands:
clinodactyly
small hands

Skeletal Pelvis:
hip dysplasia

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

Head And Neck Eyes:
abducens palsy

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

Head And Neck Face:
facial weakness

Respiratory Larynx:
laryngeal palsy

Skeletal Limbs:
asymmetric limb length (less common)


Clinical features from OMIM:

181405 271220

Human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 torticollis 31 HP:0000473
2 clinodactyly 31 HP:0030084
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
5 hyperlordosis 31 HP:0003307
6 facial palsy 31 HP:0010628
7 hip dysplasia 31 HP:0001385
8 metatarsus adductus 31 HP:0001840
9 scapular winging 31 HP:0003691
10 small hand 31 HP:0200055
11 talipes equinovarus 31 HP:0001762
12 areflexia 31 HP:0001284
13 hyporeflexia 31 HP:0001265
14 motor delay 31 HP:0001270
15 diaphragmatic weakness 31 HP:0009113
16 distal sensory impairment 31 occasional (7.5%) HP:0002936
17 progressive distal muscular atrophy 31 HP:0008955
18 broad-based gait 31 HP:0002136
19 abducens palsy 31 HP:0011349
20 motor polyneuropathy 31 HP:0007178
21 gowers sign 31 HP:0003391
22 muscle fiber splitting 31 HP:0003555
23 scapular muscle atrophy 31 HP:0009060
24 peroneal muscle weakness 31 HP:0011727
25 peroneal muscle atrophy 31 HP:0009049
26 spinal muscular atrophy 31 HP:0007269
27 amyoplasia 31 HP:0003634
28 scapuloperoneal amyotrophy 31 HP:0003697
29 progressive distal muscle weakness 31 HP:0009063

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:


facial paresis, torticollis

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:

# Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy 28 TRPV4

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

Publications for Scapuloperoneal Spinal Muscular Atrophy

Articles related to Scapuloperoneal Spinal Muscular Atrophy:

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

ClinVar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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