SPSMA
MCID: SCP002
MIFTS: 29

Scapuloperoneal Spinal Muscular Atrophy (SPSMA)

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

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

MalaCards integrated aliases for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 57 53 59 75 37 29 13 6
Spsma 57 53 59 75
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 57 53
Spinal Muscular Atrophy, Scapuloperoneal 57 29
Neurogenic Scapuloperoneal Amyotrophy, New England Type 59
Amyotrophy Neurogenic Scapuloperoneal New England Type 75
Scapuloperoneal Form of Spinal Muscular Atrophy 73
Atrophy, Muscular, Spinal, Scapuloperoneal 40
Scapuloperoneal Neuronopathy 59

Characteristics:

Orphanet epidemiological data:

59
scapuloperoneal spinal muscular atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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

spinal muscular atrophy, scapuloperoneal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot : 75 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 and facial paresis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Related phenotypes are clinodactyly and respiratory insufficiency

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 10.5
2 muscular atrophy 10.5
3 brachyolmia 9.7 TRPV4 MIR4497

Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
small hands

Skeletal Pelvis:
hip dysplasia

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

Muscle Soft Tissue:
peroneal muscle atrophy
gowers sign
scapular muscle atrophy
amyotrophy, neurogenic
scapular muscle weakness
more
Head And Neck Eyes:
abducens palsy

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 Spine:
scoliosis
kyphosis
hyperlordosis

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

Head And Neck Neck:
torticollis
weak neck flexion

Chest Diaphragm:
diaphragmatic weakness

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:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 respiratory insufficiency 32 HP:0002093
3 scoliosis 32 HP:0002650
4 kyphosis 32 HP:0002808
5 hyperlordosis 32 HP:0003307
6 facial palsy 32 HP:0010628
7 hip dysplasia 32 HP:0001385
8 metatarsus adductus 32 HP:0001840
9 scapular winging 32 HP:0003691
10 motor delay 32 HP:0001270
11 talipes equinovarus 32 HP:0001762
12 small hand 32 HP:0200055
13 areflexia 32 HP:0001284
14 hyporeflexia 32 HP:0001265
15 torticollis 32 HP:0000473
16 peroneal muscle atrophy 32 HP:0009049
17 gowers sign 32 HP:0003391
18 stridor 32 HP:0010307
19 muscle fiber splitting 32 HP:0003555
20 scapular muscle atrophy 32 HP:0009060
21 diaphragmatic weakness 32 HP:0009113
22 distal sensory impairment 32 occasional (7.5%) HP:0002936
23 broad-based gait 32 HP:0002136
24 progressive distal muscular atrophy 32 HP:0008955
25 abducens palsy 32 HP:0011349
26 motor polyneuropathy 32 HP:0007178
27 progressive distal muscle weakness 32 HP:0009063
28 peroneal muscle weakness 32 HP:0011727
29 spinal muscular atrophy 32 HP:0007269
30 amyoplasia 32 HP:0003634
31 scapuloperoneal amyotrophy 32 HP:0003697

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:

# Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy 29 TRPV4
2 Spinal Muscular Atrophy, Scapuloperoneal 29

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:

75
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg316Cys VAR_063530 rs267607145

ClinVar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

6 (show top 50) (show all 138)
# 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.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
3 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
4 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
5 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
6 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
7 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh37 Chromosome 12, 110252547: 110252547
8 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh38 Chromosome 12, 109814742: 109814742
9 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
10 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
11 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh37 Chromosome 12, 110238487: 110238487
12 TRPV4 NM_021625.4(TRPV4): c.789T> C (p.Asp263=) single nucleotide variant Benign rs3742034 GRCh38 Chromosome 12, 109800682: 109800682
13 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh37 Chromosome 12, 110238481: 110238481
14 TRPV4 NM_021625.4(TRPV4): c.795C> T (p.His265=) single nucleotide variant Benign rs1344554 GRCh38 Chromosome 12, 109800676: 109800676
15 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh37 Chromosome 12, 110234519: 110234519
16 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh38 Chromosome 12, 109796714: 109796714
17 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh37 Chromosome 12, 110226379: 110226379
18 TRPV4 NM_021625.4(TRPV4): c.2034C> T (p.Ile678=) single nucleotide variant Benign rs3742037 GRCh38 Chromosome 12, 109788574: 109788574
19 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh37 Chromosome 12, 110221524: 110221524
20 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh38 Chromosome 12, 109783719: 109783719
21 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
22 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
23 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
24 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
25 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
26 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
27 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
28 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
29 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
30 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
31 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
32 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
33 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
34 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
35 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
36 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
37 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
38 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
39 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
40 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
41 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
42 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
43 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
44 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146
45 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh38 Chromosome 12, 109800661: 109800661
46 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh37 Chromosome 12, 110238466: 110238466
47 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign/Likely benign rs185933892 GRCh38 Chromosome 12, 109792763: 109792763
48 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign/Likely benign rs185933892 GRCh37 Chromosome 12, 110230568: 110230568
49 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh37 Chromosome 12, 110232284: 110232284
50 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh38 Chromosome 12, 109794479: 109794479

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

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