SHPM
MCID: MYP114
MIFTS: 24

Myopathy, Scapulohumeroperoneal (SHPM)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Scapulohumeroperoneal

MalaCards integrated aliases for Myopathy, Scapulohumeroperoneal:

Name: Myopathy, Scapulohumeroperoneal 56 73 29 6
Shpm 56 73
Progressive Scapulohumeroperoneal Distal Myopathy 58

Characteristics:

Orphanet epidemiological data:

58
progressive scapulohumeroperoneal distal myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
slowly progressive
one family has been reported (last curated march 2016)
some patients may become wheelchair-bound
onset in first decade (as early as infancy in some)


HPO:

31
myopathy, scapulohumeroperoneal:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Scapulohumeroperoneal

UniProtKB/Swiss-Prot : 73 Myopathy, scapulohumeroperoneal: An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable.

MalaCards based summary : Myopathy, Scapulohumeroperoneal, is also known as shpm. An important gene associated with Myopathy, Scapulohumeroperoneal is ACTA1 (Actin Alpha 1, Skeletal Muscle). Affiliated tissues include skeletal muscle and testes, and related phenotypes are scapular winging and neck flexor weakness

OMIM : 56 Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015). (616852)

Related Diseases for Myopathy, Scapulohumeroperoneal

Symptoms & Phenotypes for Myopathy, Scapulohumeroperoneal

Human phenotypes related to Myopathy, Scapulohumeroperoneal:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 scapular winging 31 very rare (1%) HP:0003691
2 neck flexor weakness 31 very rare (1%) HP:0003722
3 scoliosis 31 HP:0002650
4 hyperlordosis 31 HP:0003307
5 reduced tendon reflexes 31 HP:0001315
6 achilles tendon contracture 31 HP:0001771
7 facial palsy 31 HP:0010628
8 areflexia 31 HP:0001284
9 hyporeflexia 31 HP:0001265
10 increased variability in muscle fiber diameter 31 HP:0003557
11 progressive muscle weakness 31 HP:0003323
12 centrally nucleated skeletal muscle fibers 31 HP:0003687
13 foot dorsiflexor weakness 31 HP:0009027
14 increased connective tissue 31 HP:0009025
15 hand muscle atrophy 31 HP:0009130
16 wrist drop 31 HP:0031189

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
lordosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Muscle Soft Tissue:
increased connective tissue
muscle atrophy
muscle weakness, proximal and distal
fatty infiltration
type 1 fiber atrophy
more
Skeletal Feet:
foot drop
foot muscle atrophy

Neurologic Central Nervous System:
loss of independent ambulation (in some patients)
impaired gait due to muscle weakness

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Head And Neck Neck:
neck muscle weakness

Skeletal Hands:
hand muscle atrophy
wrist drop
finger drop

Head And Neck Face:
facial weakness, mild

Head And Neck Eyes:
periocular weakness

Clinical features from OMIM:

616852

Drugs & Therapeutics for Myopathy, Scapulohumeroperoneal

Search Clinical Trials , NIH Clinical Center for Myopathy, Scapulohumeroperoneal

Genetic Tests for Myopathy, Scapulohumeroperoneal

Genetic tests related to Myopathy, Scapulohumeroperoneal:

# Genetic test Affiliating Genes
1 Myopathy, Scapulohumeroperoneal 29 ACTA1

Anatomical Context for Myopathy, Scapulohumeroperoneal

MalaCards organs/tissues related to Myopathy, Scapulohumeroperoneal:

40
Skeletal Muscle, Testes

Publications for Myopathy, Scapulohumeroperoneal

Articles related to Myopathy, Scapulohumeroperoneal:

(show all 15)
# Title Authors PMID Year
1
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 56 6
25938801 2015
2
Familial proximal spinal muscular atrophy. 6 56
4952447 1966
3
Hydrogen bonding derived self-healing polymer composites reinforced with amidation carbon fibers. 61
31550686 2020
4
Spontaneous symmetry breaking in vortex systems with two repulsive lengthscales. 61
26492969 2015
5
An ultra-low temperature scanning Hall probe microscope for magnetic imaging below 40 mK. 61
25362399 2014
6
An interchangeable scanning Hall probe/scanning SQUID microscope. 61
25173276 2014
7
Effects of single hyperinflation using a sustained high pressure manoeuvre during inhalation anaesthesia in horses. 61
23628418 2013
8
Accurate hematopoietic stem cell frequency estimates by fitting multicell Poisson models substituting to the single-hit Poisson model in limiting dilution transplantation assays. 61
20551374 2010
9
On-tip sub-micrometer Hall probes for magnetic microscopy prepared by AFM lithography. 61
19359099 2009
10
Scanning hall probe microscopy (SHPM) using quartz crystal AFM feedback. 61
18464380 2008
11
Adult variant of self-healing papular mucinosis in a patient with rheumatoid arthritis: predominant proliferation of dermal dendritic cells expressing CD34 or factor XIIIa in association with dermal deposition of mucin. 61
16469081 2006
12
Probabilitic fusion of hemodynamic parameter maps. 61
11108200 2000
13
Fitting limiting dilution experiments with generalized linear models results in a test of the single-hit Poisson assumption. 61
8765164 1996
14
The standard chi 2 test used in limiting dilution assays is insufficient for estimating the goodness-of-fit to the single-hit Poisson model. 61
8308277 1994
15
Evidence that the human placental 5-monodeiodinase is a phospholipid-requiring enzyme. 61
1592882 1992

Variations for Myopathy, Scapulohumeroperoneal

ClinVar genetic disease variations for Myopathy, Scapulohumeroperoneal:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTA1 NM_001100.3(ACTA1):c.493G>C (p.Val165Leu)SNV Pathogenic 549690 rs121909522 1:229568140-229568140 1:229432393-229432393
2 ACTA1 NM_001100.3(ACTA1):c.591G>T (p.Glu197Asp)SNV Pathogenic 224412 rs869312739 1:229568042-229568042 1:229432295-229432295

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Scapulohumeroperoneal:

73
# Symbol AA change Variation ID SNP ID
1 ACTA1 p.Glu197Asp VAR_076426 rs869312739

Expression for Myopathy, Scapulohumeroperoneal

Search GEO for disease gene expression data for Myopathy, Scapulohumeroperoneal.

Pathways for Myopathy, Scapulohumeroperoneal

GO Terms for Myopathy, Scapulohumeroperoneal

Sources for Myopathy, Scapulohumeroperoneal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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