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 56 52
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 52 58 29 6
Myh7-Related Late-Onset Scapuloperoneal Syndrome 52 58
Scapuloperoneal Syndrome, Myopathic Type 56 13
Myh7-Related Late-Onset Spmd 52 58
Spmm 56 73
X-Linked Emery-Dreifuss Muscular Dystrophy 71
Scapuloperoneal Muscular Dystrophy; Spmd 56
Scapuloperoneal Syndrome Myopathic Type 73
Myopathy, Scapuloperoneal, Myh7-Related 39
Myh7-Related Scapuloperoneal Myopathy 52
Scapuloperoneal Myopathy Myh7-Related 73
Scapuloperoneal Muscular Dystrophy 56
Spmd 56

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:

56
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

NIH Rare Diseases : 52 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 late-onset scapuloperoneal muscular dystrophy with hyaline bodies and scapuloperoneal myopathy, x-linked dominant, and has symptoms including waddling gait An important gene associated with Scapuloperoneal Myopathy, Myh7-Related is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include heart, skeletal muscle and pituitary, and related phenotypes are elevated serum creatine kinase and increased variability in muscle fiber diameter

UniProtKB/Swiss-Prot : 73 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 49)
# 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 centrally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003687
13 shoulder girdle muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003724
14 hand muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0030237
15 upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009129
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 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
20 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
21 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
22 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
23 proximal lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008956
24 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
25 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
26 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
27 left ventricular dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005162
28 heart murmur 58 31 occasional (7.5%) Occasional (29-5%) HP:0030148
29 muscle fiber splitting 58 31 occasional (7.5%) Occasional (29-5%) HP:0003555
30 limited neck flexion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005991
31 myopathic facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0002058
32 limited hip movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0008800
33 limited wrist extension 58 31 occasional (7.5%) Occasional (29-5%) HP:0006251
34 limited shoulder movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0006467
35 abnormality of the foot musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001436
36 enlargement of the ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0003029
37 triceps weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031108
38 left anterior fascicular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011711
39 beevor's sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0030664
40 limitation of movement at ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0010505
41 chronic pulmonary obstruction 31 occasional (7.5%) HP:0006510
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 weakness of facial musculature 31 HP:0030319
49 scapuloperoneal myopathy 31 HP:0009054

Symptoms via clinical synopsis from OMIM:

56
Misc:
slow progression

Lab:
myopathic electromyography and muscle biopsy

Muscle:
scapuloperoneal myopathy
facial myopathy

Clinical features from OMIM:

181430

UMLS symptoms related to Scapuloperoneal Myopathy, Myh7-Related:


waddling gait

Drugs & Therapeutics for Scapuloperoneal Myopathy, Myh7-Related

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Study of Self Gripping Semi-resorbable Mesh (PROGRIP) With Polypropylene Mesh in Open Inguinal Hernia Repair - the 6 Years Result Completed NCT00960011

Search 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

Anatomical Context for Scapuloperoneal Myopathy, Myh7-Related

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

40
Heart, Skeletal Muscle, Pituitary

Publications for Scapuloperoneal Myopathy, Myh7-Related

Articles related to Scapuloperoneal Myopathy, Myh7-Related:

(show all 21)
# Title Authors PMID Year
1
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 6 56
17336526 2007
2
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. 6
19336582 2009
3
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. 6
15699387 2005
4
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. 6
14520662 2003
5
Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a. 56
11532991 2001
6
Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus. 56
7487558 1995
7
Adult onset scapuloperoneal myopathy. 56
1202162 1975
8
[Scapulo-peroneal myopathies 14 cases including 8 with facial involvement]. 56
4311337 1969
9
The differential diagnosis of the myogenic (facio)-scapulo-peroneal syndrome. 56
5696602 1968
10
Primary Meningeal Melanocytoma in Sellar Region, Simulating a Nonfunctioning Pituitary Adenoma: Case Report and Literature Review. 61
29382618 2018
11
[Cytokines in surgery for pulmonary tuberculosis]. 61
29652321 2018
12
SPMM: estimating infection duration of multivariant HIV-1 infections. 61
26722117 2016
13
Using a shared parameter mixture model to estimate change during treatment when termination is related to recovery speed. 61
24274626 2014
14
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
15
Modeling Change in the Presence of Non-Randomly Missing Data: Evaluating A Shared Parameter Mixture Model. 61
25013354 2014
16
Combined biaxial and uniaxial mechanical characterization of prosthetic meshes in a rabbit model. 61
23672949 2013
17
A non-biological model system to simulate the in vivo mechanical behavior of prosthetic meshes. 61
23507263 2013
18
Tensile strength and host response towards different polypropylene implant materials used for augmentation of fascial repair in a rat model. 61
17031489 2007
19
K-SPMM: a database of murine spermatogenic promoters modules & motifs. 61
16670029 2006
20
Direct and indirect "cortico"-rubral and rubro-cerebellar cortical projections in the pigeon. 61
1282921 1992
21
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 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7 NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)SNV Pathogenic 14102 rs3218714 14:23898488-23898488 14:23429279-23429279
2 MYH7 NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)SNV Pathogenic 14114 rs28933098 14:23884230-23884230 14:23415021-23415021
3 MYH7 NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)SNV Pathogenic 14125 rs267606908 14:23893321-23893321 14:23424112-23424112
4 MYH7 NM_000257.4(MYH7):c.1988G>A (p.Arg663His)SNV Pathogenic 42875 rs371898076 14:23896042-23896042 14:23426833-23426833
5 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
6 MYH7 NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)SNV Pathogenic/Likely pathogenic 43100 rs397516264 14:23900811-23900811 14:23431602-23431602
7 MYH7 NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)SNV Pathogenic/Likely pathogenic 164312 rs397516171 14:23893250-23893250 14:23424041-23424041
8 MYH7 NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)SNV Pathogenic/Likely pathogenic 14088 rs3218713 14:23900677-23900677 14:23431468-23431468
9 MYH7 NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)SNV Pathogenic/Likely pathogenic 14092 rs121913628 14:23893268-23893268 14:23424059-23424059
10 MYH7 NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)SNV Pathogenic/Likely pathogenic 42874 rs397516127 14:23896043-23896043 14:23426834-23426834
11 MYH7 NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)SNV Likely pathogenic 181207 rs730880761 14:23893234-23893234 14:23424025-23424025
12 MYH7 NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)SNV Likely pathogenic 216968 rs863224900 14:23897743-23897743 14:23428534-23428534
13 MYH7 NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)SNV Conflicting interpretations of pathogenicity 43117 rs372731424 14:23899792-23899792 14:23430583-23430583
14 MYH7 NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)SNV Conflicting interpretations of pathogenicity 179272 rs727504753 14:23898554-23898554 14:23429345-23429345
15 MYH7 NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)SNV Uncertain significance 177629 rs369437262 14:23884437-23884437 14:23415228-23415228
16 MYH7 NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)SNV Uncertain significance 42966 rs397516188 14:23889170-23889170 14:23419961-23419961
17 MYH7 NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)SNV Uncertain significance 42976 rs397516195 14:23888715-23888715 14:23419506-23419506
18 MYH7 NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)SNV Uncertain significance 42985 rs372727092 14:23887606-23887606 14:23418397-23418397
19 MYH7 NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)SNV Uncertain significance 407171 rs752553589 14:23882984-23882984 14:23413775-23413775
20 MYH7 NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)SNV Uncertain significance 36641 rs141764279 14:23887607-23887607 14:23418398-23418398
21 MYH7 NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)SNV Uncertain significance 42858 rs397516119 14:23897052-23897052 14:23427843-23427843

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

73
# 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

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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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