SPM
MCID: SCP009
MIFTS: 37

Scapuloperoneal Myopathy, X-Linked Dominant (SPM)

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

Aliases & Classifications for Scapuloperoneal Myopathy, X-Linked Dominant

MalaCards integrated aliases for Scapuloperoneal Myopathy, X-Linked Dominant:

Name: Scapuloperoneal Myopathy, X-Linked Dominant 57 53 75 29 13 6 73
Spm 57 53 75
Scapuloperoneal Myopathy, Fhl1-Related 57 53
Myopathy, Scapuloperoneal, X-Linked Dominant 40
X-Linked Scapuloperoneal Muscular Dystrophy 59
X-Linked Dominant Scapuloperoneal Myopathy 53
X-Linked Emery-Dreifuss Muscular Dystrophy 73
Scapuloperoneal Myopathy Fhl1-Related 75
X-Linked Scapuloperoneal Syndrome 59
X-Linked Spmd 59

Characteristics:

Orphanet epidemiological data:

59
x-linked scapuloperoneal muscular dystrophy
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM:

57
Miscellaneous:
onset in early adulthood
most patients become wheelchair-bound
one large family has been reported (as of 2008)

Inheritance:
x-linked dominant


HPO:

32
scapuloperoneal myopathy, x-linked dominant:
Onset and clinical course adult onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

NIH Rare Diseases : 53 X-linked 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 FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.

MalaCards based summary : Scapuloperoneal Myopathy, X-Linked Dominant, also known as spm, is related to secondary progressive multiple sclerosis and degos 'en cocarde' erythrokeratoderma, and has symptoms including waddling gait An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include brain, skeletal muscle and temporal lobe, and related phenotypes are flexion contracture and myopathy

UniProtKB/Swiss-Prot : 75 Scapuloperoneal myopathy, X-linked dominant: A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.

Description from OMIM: 300695

Related Diseases for Scapuloperoneal Myopathy, X-Linked Dominant

Diseases related to Scapuloperoneal Myopathy, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 secondary progressive multiple sclerosis 11.4
2 degos 'en cocarde' erythrokeratoderma 10.6
3 niemann-pick disease 10.3
4 epilepsy 10.3
5 scapuloperoneal myopathy 10.3
6 myopathy 10.3
7 temporal lobe epilepsy 10.3
8 alzheimer disease 10.2
9 multiple sclerosis 10.2
10 dementia 10.2
11 disorganization, mouse, homolog of 10.0
12 aging 10.0
13 frontotemporal dementia 10.0
14 herpes simplex 10.0
15 frontotemporal dementia with parkinsonism-17 10.0
16 creutzfeldt-jakob disease 9.9
17 parkinson disease, late-onset 9.9
18 autism 9.9
19 arthritis 9.9
20 essential tremor 9.9
21 encephalitis 9.9
22 charles bonnet syndrome 9.9
23 tremor 9.9
24 cerebral atrophy 9.9

Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy, X-Linked Dominant:



Diseases related to Scapuloperoneal Myopathy, X-Linked Dominant

Symptoms & Phenotypes for Scapuloperoneal Myopathy, X-Linked Dominant

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
waddling gait
steppage gait
myofibrillar myopathy
foot drop
upper limb weakness
more
Neurologic Peripheral Nervous System:
hyporeflexia

Laboratory Abnormalities:
increased serum creatine kinase

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Skeletal:
joint contractures

Cardiovascular Heart:
arrhythmias may occur


Clinical features from OMIM:

300695

Human phenotypes related to Scapuloperoneal Myopathy, X-Linked Dominant:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 32 HP:0001371
2 myopathy 32 HP:0003198
3 elevated serum creatine phosphokinase 32 HP:0003236
4 arrhythmia 32 HP:0011675
5 skeletal muscle atrophy 32 HP:0003202
6 waddling gait 32 HP:0002515
7 scapular winging 32 HP:0003691
8 hyporeflexia 32 HP:0001265
9 proximal muscle weakness 32 HP:0003701
10 foot dorsiflexor weakness 32 HP:0009027
11 lower limb muscle weakness 32 HP:0007340
12 steppage gait 32 HP:0003376
13 myofibrillar myopathy 32 HP:0003715
14 scapuloperoneal myopathy 32 HP:0009054

UMLS symptoms related to Scapuloperoneal Myopathy, X-Linked Dominant:


waddling gait

Drugs & Therapeutics for Scapuloperoneal Myopathy, X-Linked Dominant

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Myopathy, X-Linked Dominant

Genetic Tests for Scapuloperoneal Myopathy, X-Linked Dominant

Genetic tests related to Scapuloperoneal Myopathy, X-Linked Dominant:

# Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, X-Linked Dominant 29 FHL1

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

MalaCards organs/tissues related to Scapuloperoneal Myopathy, X-Linked Dominant:

41
Brain, Skeletal Muscle, Temporal Lobe, Skin, Heart, Adipocyte, Testes

Publications for Scapuloperoneal Myopathy, X-Linked Dominant

Articles related to Scapuloperoneal Myopathy, X-Linked Dominant:

(show top 50) (show all 273)
# Title Authors Year
1
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? ( 30079154 )
2018
2
Repeatability and reproducibility of FreeSurfer, FSL-SIENAX and SPM brain volumetric measurements and the effect of lesion filling in multiple sclerosis. ( 30242503 )
2018
3
Single-subject SPM FDG-PET patterns predict risk of dementia progression in Parkinson disease. ( 29453242 )
2018
4
SPM-1-producing Pseudomonas aeruginosa ST277 clone recovered from microbiota of migratory birds. ( 29224710 )
2018
5
Using SPM 12's Second-Level Bayesian Inference Procedure for fMRI Analysis: Practical Guidelines for End Users. ( 29456498 )
2018
6
MACS - a new SPM toolbox for model assessment, comparison and selection. ( 29842901 )
2018
7
Polychlorinated diphenyl ethers (PCDEs) in surface sediments, suspended particulate matter (SPM) and surface water of Chaohu Lake, China. ( 29860160 )
2018
8
Dual-targeting triplebody 33-16-123 (SPM-2) mediates effective redirected lysis of primary blasts from patients with a broad range of AML subtypes in combination with natural killer cells. ( 30228941 )
2018
9
Self-Organized Formation of Quasi-Regular Ferroelectric Nanodomain Structure on the Nonpolar Cuts by Grounded SPM Tip. ( 30251530 )
2018
10
Analyzing Neural Activity and Connectivity Using Intracranial EEG Data with SPM Software. ( 30451234 )
2018
11
Subatomic-scale resolution with SPM: Co adatom on p(2 x 1)Cu(110):O. ( 30523887 )
2018
12
The impact of different 18FDG PET healthy subject scans for comparison with single patient in SPM analysis. ( 25479418 )
2017
13
Capability of Paraguaçu estuary (Todos os Santos Bay, Brazil) to form oil-SPM aggregates (OSA) and their ecotoxicological effects on pelagic and benthic organisms. ( 27697322 )
2017
14
Spectrally-Presaturated Modulation (SPM): An efficient fat suppression technique for STEAM-based cardiac imaging sequences. ( 27826082 )
2017
15
Molecular epidemiology of SPM-1-producing Pseudomonas aeruginosa by rep-PCR in hospitals in Parana, Brazil. ( 27923770 )
2017
16
PETPVE12: an SPM toolbox for Partial Volume Effects correction in brain PET - Application to amyloid imaging with AV45-PET. ( 28039094 )
2017
17
Validation of 18F-FDG-PET Single-Subject Optimized SPM Procedure with Different PET Scanners. ( 28063108 )
2017
18
Quantitative SPM Analysis Involving an Adaptive Template May Be Easily Applied to [18F]FDG PET Images of the Rat Brain. ( 28108871 )
2017
19
Expression of ODC1, SPD, SPM and AZIN1 in the hypothalamus, ovary and uterus during rat estrous cycle. ( 28315656 )
2017
20
Actions of SPM in regulating host responses in arthritis. ( 28456616 )
2017
21
The application of surgical procedure manager (SPM): first experience with FESS. ( 28687917 )
2017
22
Analysis of emerging organic contaminants in water, fish and suspended particulate matter (SPM) in the Joint Danube Survey using solid-phase extraction followed by UHPLC-MS-MS and GC-MS analysis. ( 28732399 )
2017
23
High resolution SPM imaging of organic molecules with functionalized tips. ( 28749786 )
2017
24
Risk assessment and seasonal variation of heavy metals in settling particulate matter (SPM) from a typical southern Chinese mariculture base. ( 28826923 )
2017
25
The Formation of Self-Organized Domain Structures at Non-Polar Cuts of Lithium Niobate as a Result of Local Switching by an SPM Tip. ( 28956822 )
2017
26
High mortality of bloodstream infection outbreak caused by carbapenem-resistant P. aeruginosa producing SPM-1 in a bone marrow transplant unit. ( 29095142 )
2017
27
Probing electrochemically induced resistive switching of TiO2 using SPM techniques. ( 29155913 )
2017
28
Precise Nanoscale Measurements with Scanning Probe Microscopy (SPM): A Review. ( 29638104 )
2017
29
fMRat: an extension of SPM for a fully automatic analysis of rodent brain functional magnetic resonance series. ( 26285671 )
2016
30
Sparse SPM: Group Sparse-dictionary learning in SPM framework for resting-state functional connectivity MRI analysis. ( 26524138 )
2016
31
Characterizing subsequent primary melanomas (SPM) in adolescents and young adults: A population-based study from 1973 to 2011. ( 26702802 )
2016
32
Improvement of the Off-Resonance Saturation, an MRI sequence for positive contrast with SPM particles: Theoretical and experimental study. ( 26894477 )
2016
33
SPM-1 metallo-β-lactamase-producing Pseudomonas aeruginosa ST277 in the UK. ( 27126265 )
2016
34
Cross talk between MMP2-Spm-Cer-S1P and ERK1/2 in proliferation of pulmonary artery smooth muscle cells under angiotensin II stimulation. ( 27210740 )
2016
35
Presence of high-risk clones of OXA-23-producing Acinetobacter baumannii (ST79) and SPM-1-producing Pseudomonas aeruginosa (ST277) in environmental water samples in Brazil. ( 27342783 )
2016
36
Exploring fMRI Results Space: 31 Variants of an fMRI Analysis in AFNI, FSL, and SPM. ( 27458367 )
2016
37
Mechanisms of carbapenem resistance in endemic Pseudomonas aeruginosa isolates after an SPM-1 metallo-β-lactamase producing strain subsided in an intensive care unit of a teaching hospital in Brazil. ( 27653359 )
2016
38
Influence of Group on Individual Subject Maps in SPM Voxel Based Morphometry. ( 27994534 )
2016
39
Intraclonal Genome Stability of the Metallo-β-lactamase SPM-1-producing Pseudomonas aeruginosa ST277, an Endemic Clone Disseminated in Brazilian Hospitals. ( 27994579 )
2016
40
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
41
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
42
POAS4SPM: a toolbox for SPM to denoise diffusion MRI data. ( 24993814 )
2015
43
Erratum to: Antiviral activity of Bifidobacterium adolescentis SPM 0214 against Herpes Simplex Virus Type 1. ( 25370609 )
2015
44
Framed carbon nanostructures: synthesis and applications in functional SPM tips. ( 25461592 )
2015
45
Statistical Parametric Mapping (SPM) for alpha-based statistical analyses of multi-muscle EMG time-series. ( 25465983 )
2015
46
A 12-step user guide for analyzing voxel-wise gray matter asymmetries in statistical parametric mapping (SPM). ( 25591011 )
2015
47
Large area high-speed metrology SPM system. ( 25597347 )
2015
48
Genomic diversification and virulence features in SPM-1-producing Pseudomonas aeruginosa 13 years later. ( 25824724 )
2015
49
Metallo-beta-Lactamase VIM-1, SPM-1, and IMP-1 Genes Among Clinical Pseudomonas aeruginosa Species Isolated in Zahedan, Iran. ( 26034547 )
2015
50
Full characterization of the integrative and conjugative element carrying the metallo-β-lactamase bla SPM-1 and bicyclomycin bcr1 resistance genes found in the pandemic Pseudomonas aeruginosa clone SP/ST277. ( 26093374 )
2015

Variations for Scapuloperoneal Myopathy, X-Linked Dominant

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:

75
# Symbol AA change Variation ID SNP ID
1 FHL1 p.Trp122Ser VAR_042603 rs122458140
2 FHL1 p.His154Pro VAR_076566

ClinVar genetic disease variations for Scapuloperoneal Myopathy, X-Linked Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001159702.2(FHL1): c.365G> C (p.Trp122Ser) single nucleotide variant Pathogenic rs122458140 GRCh37 Chromosome X, 135289984: 135289984
2 FHL1 NM_001159702.2(FHL1): c.365G> C (p.Trp122Ser) single nucleotide variant Pathogenic rs122458140 GRCh38 Chromosome X, 136207825: 136207825
3 FHL1 FHL1, 3-BP INS, 381ATC insertion Pathogenic
4 FHL1 NM_001159702.2(FHL1): c.889-8C> T single nucleotide variant Benign rs2076705 GRCh37 Chromosome X, 135292022: 135292022
5 FHL1 NM_001159702.2(FHL1): c.889-8C> T single nucleotide variant Benign rs2076705 GRCh38 Chromosome X, 136209863: 136209863

Expression for Scapuloperoneal Myopathy, X-Linked Dominant

Search GEO for disease gene expression data for Scapuloperoneal Myopathy, X-Linked Dominant.

Pathways for Scapuloperoneal Myopathy, X-Linked Dominant

GO Terms for Scapuloperoneal Myopathy, X-Linked Dominant

Sources for Scapuloperoneal Myopathy, X-Linked Dominant

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