MCID: SCP009
MIFTS: 32

Scapuloperoneal Myopathy, X-Linked Dominant

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

Aliases & Classifications for Scapuloperoneal Myopathy, X-Linked Dominant

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

Name: Scapuloperoneal Myopathy, X-Linked Dominant 53 49 69 71 28 13
Spm 53 49 71
Scapuloperoneal Myopathy, Fhl1-Related 53 49
X-Linked Scapuloperoneal Muscular Dystrophy 55
X-Linked Dominant Scapuloperoneal Myopathy 49
X-Linked Emery-Dreifuss Muscular Dystrophy 69
Scapuloperoneal Myopathy Fhl1-Related 71
X-Linked Scapuloperoneal Syndrome 55
X-Linked Spmd 55

Characteristics:

Orphanet epidemiological data:

55
x-linked scapuloperoneal muscular dystrophy
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM:

53
Miscellaneous:
onset in early adulthood
most patients become wheelchair-bound
one large family has been reported (as of 2008)

Inheritance:
x-linked dominant


HPO:

31
scapuloperoneal myopathy, x-linked dominant:
Onset and clinical course adult onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

NIH Rare Diseases : 49 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. Last updated: 8/9/2012

MalaCards based summary : Scapuloperoneal Myopathy, X-Linked Dominant, also known as spm, is related to secondary progressive multiple sclerosis and niemann-pick disease, and has symptoms including waddling gait, lower limb muscle weakness and flexion contracture. An important gene associated with Scapuloperoneal Myopathy, X-Linked Dominant is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot : 71 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 15)
# Related Disease Score Top Affiliating Genes
1 secondary progressive multiple sclerosis 11.3
2 niemann-pick disease 10.2
3 scapuloperoneal myopathy 10.2
4 myopathy 10.2
5 multiple sclerosis 10.0
6 dementia 9.9
7 cerebritis 9.9
8 frontotemporal dementia 9.8
9 parametritis 9.8
10 epilepsy 9.8
11 essential tremor 9.8
12 encephalitis 9.8
13 charles bonnet syndrome 9.8
14 cerebral atrophy 9.8
15 tremor 9.8

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:

53
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 RibsSternum 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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 waddling gait 31 HP:0002515
2 lower limb muscle weakness 31 HP:0007340
3 flexion contracture 31 HP:0001371
4 elevated serum creatine phosphokinase 31 HP:0003236
5 arrhythmia 31 HP:0011675
6 skeletal muscle atrophy 31 HP:0003202
7 scapular winging 31 HP:0003691
8 hyporeflexia 31 HP:0001265
9 steppage gait 31 HP:0003376
10 myofibrillar myopathy 31 HP:0003715
11 proximal muscle weakness 31 HP:0003701
12 foot dorsiflexor weakness 31 HP:0009027
13 scapuloperoneal myopathy 31 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 28 FHL1

Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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

38
Skeletal Muscle

Publications for Scapuloperoneal Myopathy, X-Linked Dominant

Articles related to Scapuloperoneal Myopathy, X-Linked Dominant:

(show all 47)
# Title Authors Year
1
Disparate voxel based morphometry (VBM) results between SPM and FSL softwares in ALS patients with frontotemporal dementia: which VBM results to consider? ( 25879588 )
2015
2
Measuring the Impact of Secondary Progressive Multiple Sclerosis (Spms) in the Ascend Trial: Equating the Msis-29, Msws-12, Abilhand-56 and Sf-36. ( 26533994 )
2015
3
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
4
Development of A Screening Tool to Support Identification of Patients With Secondary Progressive Multiple Sclerosis (Spms). ( 26534272 )
2015
5
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
6
Quantification of Global Cerebral Atrophy in Multiple Sclerosis from 3T MRI Using SPM: The Role of Misclassification Errors. ( 25523616 )
2015
7
Validation of an optimized SPM procedure for FDG-PET in dementia diagnosis in a clinical setting. ( 25389519 )
2014
8
Differences in cerebral perfusion according to phenotypes of essential tremor: brain perfusion SPECT study using SPM analysis. ( 24337969 )
2013
9
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )
2012
10
Hypermetabolism in the left thalamus and right inferior temporal area on positron emission tomography-statistical parametric mapping (PET-SPM) in a patient with Charles Bonnet syndrome resolving after treatment with valproic acid. ( 21700465 )
2011
11
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. ( 21372459 )
2011
12
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. ( 20175956 )
2010
13
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. ( 20149661 )
2010
14
Bovine serum amine oxidase and spm potentiate docetaxel and interferon-alpha effects in inducing apoptosis on human cancer cells through the generation of oxidative stress. ( 18848847 )
2008
15
18F-FP-CIT PET imaging and SPM analysis of dopamine transporters in Parkinson's disease in various Hoehn & Yahr stages. ( 17334953 )
2007
16
Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. ( 17462627 )
2007
17
A case of Bickerstaff's brainstem encephalitis; the evidence of cerebellum involvement by SPM analysis using PET. ( 16644411 )
2006
18
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. ( 15880484 )
2005
19
The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. ( 15272897 )
2004
20
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. ( 12398842 )
2002
21
CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. ( 12115980 )
2002
22
(18)F-FDG PET in localization of frontal lobe epilepsy: comparison of visual and SPM analysis. ( 12215554 )
2002
23
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. ( 12490172 )
2002
24
Establishment and characterization of immortalized Schwann cells from murine model of Niemann-Pick disease type C (spm/spm). ( 11446388 )
2001
25
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. ( 11470279 )
2001
26
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. ( 11369194 )
2001
27
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. ( 11063761 )
2000
28
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. ( 11053683 )
2000
29
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. ( 10323252 )
1999
30
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. ( 10382910 )
1999
31
60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. ( 10220867 )
1999
32
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. ( 10398203 )
1999
33
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ( 10480214 )
1999
34
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. ( 10382909 )
1999
35
Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. ( 9608558 )
1998
36
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. ( 9608559 )
1998
37
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ( 9195226 )
1997
38
A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C. ( 9050921 )
1997
39
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. ( 9266737 )
1997
40
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. ( 9132142 )
1997
41
Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. ( 9160182 )
1997
42
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 8215002 )
1993
43
Nitric oxide liberating, soluble guanylate cyclase stimulating and vasorelaxing properties of the new nitrate-compound SPM 3672. ( 7690081 )
1993
44
Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. ( 1686773 )
1991
45
Allogeneic bone marrow-plus-liver transplantation in the C57BL/KsJ spm/spm mouse, an animal model of Niemann-Pick disease. ( 2139261 )
1990
46
Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. ( 2440002 )
1987
47
A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice. ( 3559164 )
1986

Variations for Scapuloperoneal Myopathy, X-Linked Dominant

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

71
# 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 FHL1, 3-BP INS, 381ATC insertion Pathogenic

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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70 UMLS via Orphanet
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