SPMM
MCID: SCP012
MIFTS: 35

Scapuloperoneal Myopathy, Myh7-Related (SPMM)

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

Aliases & Classifications for Scapuloperoneal Myopathy, Myh7-Related

MalaCards integrated aliases for Scapuloperoneal Myopathy, Myh7-Related:

Name: Scapuloperoneal Myopathy, Myh7-Related 57 20
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 20 58 29 6
Myh7-Related Late-Onset Scapuloperoneal Syndrome 20 58
Scapuloperoneal Syndrome, Myopathic Type 57 13
Myh7-Related Late-Onset Spmd 20 58
Spmm 57 72
X-Linked Emery-Dreifuss Muscular Dystrophy 70
Scapuloperoneal Muscular Dystrophy; Spmd 57
Scapuloperoneal Syndrome Myopathic Type 72
Myopathy, Scapuloperoneal, Myh7-Related 39
Myh7-Related Scapuloperoneal Myopathy 20
Scapuloperoneal Myopathy Myh7-Related 72
Scapuloperoneal Muscular Dystrophy 57
Spmd 57

Characteristics:

Orphanet epidemiological data:

58
myh7-related late-onset scapuloperoneal muscular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: Not yet documented;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
scapuloperoneal myopathy, myh7-related:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Scapuloperoneal Myopathy, Myh7-Related

GARD : 20 MYH7 -related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the MYH7 gene. Autosomal dominant inheritance is suggested in these cases. Treatment is symptomatic and supportive.

MalaCards based summary : Scapuloperoneal Myopathy, Myh7-Related, also known as myh7-related late-onset scapuloperoneal muscular dystrophy, is related to scapuloperoneal myopathy, x-linked dominant and emery-dreifuss muscular dystrophy, and has symptoms including waddling gait An important gene associated with Scapuloperoneal Myopathy, Myh7-Related is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include skeletal muscle, heart and pituitary, and related phenotypes are elevated serum creatine kinase and increased variability in muscle fiber diameter

UniProtKB/Swiss-Prot : 72 Scapuloperoneal myopathy MYH7-related: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.

More information from OMIM: 181430

Related Diseases for Scapuloperoneal Myopathy, Myh7-Related

Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy, Myh7-Related:



Diseases related to Scapuloperoneal Myopathy, Myh7-Related

Symptoms & Phenotypes for Scapuloperoneal Myopathy, Myh7-Related

Human phenotypes related to Scapuloperoneal Myopathy, Myh7-Related:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
2 increased variability in muscle fiber diameter 58 31 hallmark (90%) Very frequent (99-80%) HP:0003557
3 foot dorsiflexor weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009027
4 tibialis muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0008963
5 shoulder girdle muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003547
6 increased endomysial connective tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0100297
7 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
8 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
9 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
10 steppage gait 58 31 frequent (33%) Frequent (79-30%) HP:0003376
11 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
12 shoulder girdle muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003724
13 hand muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0030237
14 upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009129
15 centrally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003687
16 decreased achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0009072
17 decreased patellar reflex 58 31 frequent (33%) Frequent (79-30%) HP:0011808
18 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
19 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
20 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
21 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
22 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
23 proximal lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008956
24 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
25 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
26 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
27 heart murmur 58 31 occasional (7.5%) Occasional (29-5%) HP:0030148
28 muscle fiber splitting 58 31 occasional (7.5%) Occasional (29-5%) HP:0003555
29 limited neck flexion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005991
30 myopathic facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0002058
31 limited hip movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0008800
32 limited wrist extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0006251
33 limited shoulder movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0006467
34 abnormality of the foot musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001436
35 enlargement of the ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0003029
36 triceps weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031108
37 left anterior fascicular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011711
38 beevor's sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0030664
39 limitation of movement at ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0010505
40 chronic pulmonary obstruction 31 occasional (7.5%) HP:0006510
41 abnormal left ventricular function 31 occasional (7.5%) HP:0005162
42 gait disturbance 58 Occasional (29-5%)
43 abnormality of the cardiovascular system 58 Occasional (29-5%)
44 reduced tendon reflexes 58 Frequent (79-30%)
45 chronic obstructive pulmonary disease 58 Occasional (29-5%)
46 distal lower limb muscle weakness 58 Occasional (29-5%)
47 upper limb muscle weakness 58 Occasional (29-5%)
48 left ventricular dysfunction 58 Occasional (29-5%)
49 weakness of facial musculature 31 HP:0030319
50 scapuloperoneal myopathy 31 HP:0009054

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Misc:
slow progression

Lab:
myopathic electromyography and muscle biopsy

Muscle:
scapuloperoneal myopathy
facial myopathy

Clinical features from OMIM®:

181430 (Updated 20-May-2021)

UMLS symptoms related to Scapuloperoneal Myopathy, Myh7-Related:


waddling gait

Drugs & Therapeutics for Scapuloperoneal Myopathy, Myh7-Related

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Myopathy, Myh7-Related

Genetic Tests for Scapuloperoneal Myopathy, Myh7-Related

Genetic tests related to Scapuloperoneal Myopathy, Myh7-Related:

# Genetic test Affiliating Genes
1 Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 29 MYH7

Anatomical Context for Scapuloperoneal Myopathy, Myh7-Related

MalaCards organs/tissues related to Scapuloperoneal Myopathy, Myh7-Related:

40
Skeletal Muscle, Heart, Pituitary, Bone

Publications for Scapuloperoneal Myopathy, Myh7-Related

Articles related to Scapuloperoneal Myopathy, Myh7-Related:

(show all 27)
# Title Authors PMID Year
1
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 6 57
17336526 2007
2
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 6
25132132 2014
3
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 6
23299917 2013
4
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
5
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 6
23290139 2013
6
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 6
19336582 2009
7
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. 6
15699387 2005
8
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 6
14520662 2003
9
Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a. 57
11532991 2001
10
Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 6
10750581 1999
11
Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus. 57
7487558 1995
12
Adult onset scapuloperoneal myopathy. 57
1202162 1975
13
[Scapulo-peroneal myopathies 14 cases including 8 with facial involvement]. 57
4311337 1969
14
The differential diagnosis of the myogenic (facio)-scapulo-peroneal syndrome. 57
5696602 1968
15
Primary Meningeal Melanocytoma in Sellar Region, Simulating a Nonfunctioning Pituitary Adenoma: Case Report and Literature Review. 61
29382618 2018
16
[Cytokines in surgery for pulmonary tuberculosis]. 61
29652321 2018
17
SPMM: estimating infection duration of multivariant HIV-1 infections. 61
26722117 2016
18
The microwave properties of simulated melting precipitation particles: sensitivity to initial melting. 61
32818044 2016
19
Using a shared parameter mixture model to estimate change during treatment when termination is related to recovery speed. 61
24274626 2014
20
Novel amphiphilic polymeric ionic liquid-solid phase micro-extraction membrane for the preconcentration of aniline as degradation product of azo dye Orange G under sonication by liquid chromatography-tandem mass spectrometry. 61
24857038 2014
21
Modeling Change in the Presence of Non-Randomly Missing Data: Evaluating A Shared Parameter Mixture Model. 61
25013354 2014
22
Combined biaxial and uniaxial mechanical characterization of prosthetic meshes in a rabbit model. 61
23672949 2013
23
A non-biological model system to simulate the in vivo mechanical behavior of prosthetic meshes. 61
23507263 2013
24
Tensile strength and host response towards different polypropylene implant materials used for augmentation of fascial repair in a rat model. 61
17031489 2007
25
K-SPMM: a database of murine spermatogenic promoters modules & motifs. 61
16670029 2006
26
Direct and indirect "cortico"-rubral and rubro-cerebellar cortical projections in the pigeon. 61
1282921 1992
27
The junctional pattern of the human villous trophoblast. A freeze-fracture study. 61
7173727 1982

Variations for Scapuloperoneal Myopathy, Myh7-Related

ClinVar genetic disease variations for Scapuloperoneal Myopathy, Myh7-Related:

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH7 NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) SNV Pathogenic 14114 rs28933098 GRCh37: 14:23884230-23884230
GRCh38: 14:23415021-23415021
2 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) SNV Pathogenic 42874 rs397516127 GRCh37: 14:23896043-23896043
GRCh38: 14:23426834-23426834
3 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) SNV Pathogenic 14088 rs3218713 GRCh37: 14:23900677-23900677
GRCh38: 14:23431468-23431468
4 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 GRCh37: 14:23896042-23896042
GRCh38: 14:23426833-23426833
5 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic 42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
6 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) SNV Pathogenic 14102 rs3218714 GRCh37: 14:23898488-23898488
GRCh38: 14:23429279-23429279
7 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) SNV Pathogenic 14092 rs121913628 GRCh37: 14:23893268-23893268
GRCh38: 14:23424059-23424059
8 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) SNV Pathogenic 14125 rs267606908 GRCh37: 14:23893321-23893321
GRCh38: 14:23424112-23424112
9 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His) SNV Pathogenic 42875 rs371898076 GRCh37: 14:23896042-23896042
GRCh38: 14:23426833-23426833
10 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) SNV Likely pathogenic 43100 rs397516264 GRCh37: 14:23900811-23900811
GRCh38: 14:23431602-23431602
11 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) SNV Likely pathogenic 164312 rs397516171 GRCh37: 14:23893250-23893250
GRCh38: 14:23424041-23424041
12 MYH7 NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) SNV Likely pathogenic 216968 rs863224900 GRCh37: 14:23897743-23897743
GRCh38: 14:23428534-23428534
13 MYH7 NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) SNV Likely pathogenic 181207 rs730880761 GRCh37: 14:23893234-23893234
GRCh38: 14:23424025-23424025
14 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr) SNV Likely pathogenic 179272 rs727504753 GRCh37: 14:23898554-23898554
GRCh38: 14:23429345-23429345
15 MYH7 NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) SNV Uncertain significance 312889 rs886050415 GRCh37: 14:23884281-23884281
GRCh38: 14:23415072-23415072
16 MYH7 NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) SNV Uncertain significance 312918 rs879196018 GRCh37: 14:23901901-23901901
GRCh38: 14:23432692-23432692
17 MYH7 NM_000257.4(MYH7):c.2922+6G>C SNV Uncertain significance 312907 rs781192476 GRCh37: 14:23893110-23893110
GRCh38: 14:23423901-23423901
18 MYH7 NM_000257.4(MYH7):c.-47G>T SNV Uncertain significance 312921 rs886050425 GRCh37: 14:23903441-23903441
GRCh38: 14:23434232-23434232
19 MYH7 NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) SNV Uncertain significance 312904 rs753137666 GRCh37: 14:23892887-23892887
GRCh38: 14:23423678-23423678
20 MYH7 NM_000257.4(MYH7):c.-39C>A SNV Uncertain significance 312920 rs886050424 GRCh37: 14:23903433-23903433
GRCh38: 14:23434224-23434224
21 MYH7 NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) SNV Uncertain significance 312899 rs886050418 GRCh37: 14:23887430-23887430
GRCh38: 14:23418221-23418221
22 MYH7 NM_000257.4(MYH7):c.733-3C>T SNV Uncertain significance 222732 rs765068619 GRCh37: 14:23900693-23900693
GRCh38: 14:23431484-23431484
23 MYH7 , MHRT NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) SNV Uncertain significance 191728 rs745414245 GRCh37: 14:23886744-23886744
GRCh38: 14:23417535-23417535
24 MYH7 NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) SNV Uncertain significance 42858 rs397516119 GRCh37: 14:23897052-23897052
GRCh38: 14:23427843-23427843
25 MYH7 NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) SNV Uncertain significance 43117 rs372731424 GRCh37: 14:23899792-23899792
GRCh38: 14:23430583-23430583
26 MYH7 NM_000257.4(MYH7):c.5774G>A (p.Arg1925His) SNV Uncertain significance 407171 rs752553589 GRCh37: 14:23882984-23882984
GRCh38: 14:23413775-23413775
27 MYH7 NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr) SNV Uncertain significance 42985 rs372727092 GRCh37: 14:23887606-23887606
GRCh38: 14:23418397-23418397
28 MYH7 NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln) SNV Uncertain significance 42976 rs397516195 GRCh37: 14:23888715-23888715
GRCh38: 14:23419506-23419506
29 MYH7 NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg) SNV Uncertain significance 42966 rs397516188 GRCh37: 14:23889170-23889170
GRCh38: 14:23419961-23419961
30 MYH7 NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) SNV Uncertain significance 177629 rs369437262 GRCh37: 14:23884437-23884437
GRCh38: 14:23415228-23415228
31 MYH7 NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) SNV Uncertain significance 36641 rs141764279 GRCh37: 14:23887607-23887607
GRCh38: 14:23418398-23418398
32 MYH7 NM_000257.4(MYH7):c.*20G>A SNV Likely benign 188649 rs45548631 GRCh37: 14:23882043-23882043
GRCh38: 14:23412834-23412834
33 MYH7 NM_000257.4(MYH7):c.153C>T (p.Ile51=) SNV Likely benign 181166 rs373145667 GRCh37: 14:23902789-23902789
GRCh38: 14:23433580-23433580
34 MYH7 , LOC114827851 , MYH6 NM_002471.3(MYH6):c.-64G>C SNV Likely benign 312886 rs79618123 GRCh37: 14:23877479-23877479
GRCh38: 14:23408270-23408270
35 MYH7 , LOC114827851 SNV Likely benign 369066 rs142094404 GRCh37: 14:23877490-23877490
GRCh38: 14:23408281-23408281
36 MYH7 NM_000257.4(MYH7):c.*105T>C SNV Likely benign 312888 rs200550717 GRCh37: 14:23881958-23881958
GRCh38: 14:23412749-23412749
37 MYH7 NM_000257.4(MYH7):c.2769C>T (p.Asn923=) SNV Likely benign 42931 rs36211716 GRCh37: 14:23893269-23893269
GRCh38: 14:23424060-23424060
38 MYH7 NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) SNV Likely benign 42949 rs138294643 GRCh37: 14:23891478-23891478
GRCh38: 14:23422269-23422269
39 MYH6 , MYH7 NM_000257.4(MYH7):c.*113G>A SNV Benign 312887 rs17794387 GRCh37: 14:23881950-23881950
GRCh38: 14:23412741-23412741
40 MYH7 NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) SNV not provided 179201 rs727504703 GRCh37: 14:23887432-23887432
GRCh38: 14:23418223-23418223

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, Myh7-Related:

72
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1845Trp VAR_017754 rs28933098

Expression for Scapuloperoneal Myopathy, Myh7-Related

Search GEO for disease gene expression data for Scapuloperoneal Myopathy, Myh7-Related.

Pathways for Scapuloperoneal Myopathy, Myh7-Related

GO Terms for Scapuloperoneal Myopathy, Myh7-Related

Sources for Scapuloperoneal Myopathy, Myh7-Related

3 CDC
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11 DGIdb
17 EFO
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35 IUPHAR
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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