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SPMM
MCID: SCP012
MIFTS: 33

Scapuloperoneal Myopathy, Myh7-Related (SPMM)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Scapuloperoneal Myopathy, Myh7-Related

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MalaCards integrated aliases for Scapuloperoneal Myopathy, Myh7-Related:

Name: Scapuloperoneal Myopathy, Myh7-Related 57 53 29 6
Scapuloperoneal Syndrome, Myopathic Type 57 53 13
Spmm 57 53 75
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 53 59
Myh7-Related Late-Onset Scapuloperoneal Syndrome 53 59
Scapuloperoneal Muscular Dystrophy 57 53
Myh7-Related Late-Onset Spmd 53 59
Spmd 57 53
X-Linked Emery-Dreifuss Muscular Dystrophy 73
Scapuloperoneal Muscular Dystrophy; Spmd 57
Scapuloperoneal Syndrome Myopathic Type 75
Myopathy, Scapuloperoneal, Myh7-Related 40
Myh7-Related Scapuloperoneal Myopathy 53
Scapuloperoneal Myopathy Myh7-Related 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant


HPO:

32
scapuloperoneal myopathy, myh7-related:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Scapuloperoneal Myopathy, Myh7-Related

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NIH Rare Diseases : 53 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 scapuloperoneal syndrome, myopathic type, 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 heart and skeletal muscle, and related phenotypes are hypertension and intellectual disability

UniProtKB/Swiss-Prot : 75 Scapuloperoneal myopathy MYH7-related: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.

Description from OMIM: 181430
Sources

Related Diseases for Scapuloperoneal Myopathy, Myh7-Related

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Diseases in the Scapuloperoneal Myopathy family:

Scapuloperoneal Myopathy, Myh7-Related

Diseases related to Scapuloperoneal Myopathy, Myh7-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 scapuloperoneal myopathy, x-linked dominant 11.3
2 emery-dreifuss muscular dystrophy 11.3
3 muscular dystrophy 10.4
4 muscular dystrophy, limb-girdle, autosomal recessive 8 10.2
5 telangiectasis 10.2
6 myopathy 10.2
7 myopathy, myosin storage, autosomal recessive 9.8 MYH7 MHRT
8 scapuloperoneal myopathy 9.8 MYH7 MHRT
9 myosin storage myopathy 9.8 MYH7 MHRT
10 congestive heart failure 9.8 MYH7 MHRT
11 left ventricular noncompaction 9.7 MYH7 MHRT

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



Diseases related to Scapuloperoneal Myopathy, Myh7-Related
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Symptoms & Phenotypes for Scapuloperoneal Myopathy, Myh7-Related

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Symptoms via clinical synopsis from OMIM:

57
Misc:
slow progression

Lab:
myopathic electromyography and muscle biopsy

Muscle:
scapuloperoneal myopathy
facial myopathy


Clinical features from OMIM:

181430

Human phenotypes related to Scapuloperoneal Myopathy, Myh7-Related:

59 32 (show top 50) (show all 85)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
4 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
5 pes planus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001763
6 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
7 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
8 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
9 reduced tendon reflexes 59 32 hallmark (90%) Frequent (79-30%) HP:0001315
10 scapular winging 59 32 frequent (33%) Frequent (79-30%) HP:0003691
11 proximal lower limb amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008956
12 chronic obstructive pulmonary disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0006510
13 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
14 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
15 myopathic facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0002058
16 increased variability in muscle fiber diameter 59 32 hallmark (90%) Very frequent (99-80%) HP:0003557
17 foot dorsiflexor weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009027
18 centrally nucleated skeletal muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003687
19 steppage gait 59 32 frequent (33%) Frequent (79-30%) HP:0003376
20 muscle fiber splitting 59 32 occasional (7.5%) Occasional (29-5%) HP:0003555
21 limited hip movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0008800
22 tibialis muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0008963
23 limited shoulder movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0006467
24 increased endomysial connective tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0100297
25 hand muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0030237
26 heart murmur 59 32 occasional (7.5%) Occasional (29-5%) HP:0030148
27 shoulder girdle muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003547
28 upper limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009129
29 left ventricular failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0005162
30 enlargement of the ankles 59 32 occasional (7.5%) Occasional (29-5%) HP:0003029
31 limited neck flexion 59 32 occasional (7.5%) Occasional (29-5%) HP:0005991
32 decreased achilles reflex 59 32 frequent (33%) Frequent (79-30%) HP:0009072
33 shoulder girdle muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003724
34 decreased patellar reflex 59 32 frequent (33%) Frequent (79-30%) HP:0011808
35 left anterior fascicular block 59 32 occasional (7.5%) Occasional (29-5%) HP:0011711
36 beevor's sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0030664
37 triceps weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0031108
38 limited wrist extension 59 32 occasional (7.5%) Occasional (29-5%) HP:0006251
39 limitation of movement at ankles 59 32 occasional (7.5%) Occasional (29-5%) HP:0010505
40 short neck 32 frequent (33%) HP:0000470
41 pectus excavatum 32 hallmark (90%) HP:0000767
42 obesity 32 occasional (7.5%) HP:0001513
43 ptosis 32 occasional (7.5%) HP:0000508
44 muscular hypotonia 32 occasional (7.5%) HP:0001252
45 gait disturbance 59 Occasional (29-5%)
46 sudden cardiac death 32 very rare (1%) HP:0001645
47 scoliosis 32 occasional (7.5%) HP:0002650
48 kyphosis 32 occasional (7.5%) HP:0002808
49 joint stiffness 32 hallmark (90%) HP:0001387
50 ichthyosis 32 occasional (7.5%) HP:0008064

UMLS symptoms related to Scapuloperoneal Myopathy, Myh7-Related:


waddling gait
Sources

Drugs & Therapeutics for Scapuloperoneal Myopathy, Myh7-Related

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

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Genetic Tests for Scapuloperoneal Myopathy, Myh7-Related

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Genetic tests related to Scapuloperoneal Myopathy, Myh7-Related:

# Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, Myh7-Related 29 MYH7
Sources

Anatomical Context for Scapuloperoneal Myopathy, Myh7-Related

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

41
Heart, Skeletal Muscle
Sources

Publications for Scapuloperoneal Myopathy, Myh7-Related

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Articles related to Scapuloperoneal Myopathy, Myh7-Related:

# Title Authors Year
1
Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks. ( 25873785 )
2014
2
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. ( 23142638 )
2013
3
Retinal telangiectasis in scapuloperoneal muscular dystrophy. ( 1882951 )
1991
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Variations for Scapuloperoneal Myopathy, Myh7-Related

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

75
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1845Trp VAR_017754 rs28933098

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
2 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
3 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh37 Chromosome 14, 23884230: 23884230
4 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh38 Chromosome 14, 23415021: 23415021
5 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
6 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh38 Chromosome 14, 23426834: 23426834
7 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
8 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh38 Chromosome 14, 23426833: 23426833
9 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh37 Chromosome 14, 23894525: 23894525
10 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh38 Chromosome 14, 23425316: 23425316
11 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
12 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh38 Chromosome 14, 23424041: 23424041
13 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743
14 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh38 Chromosome 14, 23428534: 23428534
Sources

Expression for Scapuloperoneal Myopathy, Myh7-Related

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

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GO Terms for Scapuloperoneal Myopathy, Myh7-Related

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Sources for Scapuloperoneal Myopathy, Myh7-Related

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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