MCID: SCP009
MIFTS: 33

Scapuloperoneal Myopathy, X-Linked Dominant

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle 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 niemann-pick disease, 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 skeletal muscle, skin and heart, and related phenotypes are hyporeflexia and flexion contracture

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 21)
# 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 niemann-pick disease, type c1 10.0
7 parametritis 10.0
8 cerebritis 10.0
9 alzheimer disease 9.9
10 dementia 9.9
11 epilepsy 9.9
12 autism 9.8
13 frontotemporal dementia 9.8
14 temporal lobe epilepsy 9.8
15 mucositis 9.8
16 essential tremor 9.8
17 encephalitis 9.8
18 charles bonnet syndrome 9.8
19 frontotemporal dementia with parkinsonism-17 9.8
20 cerebral atrophy 9.8
21 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:

57
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Muscle Soft Tissue:
steppage gait
myofibrillar myopathy
waddling gait
foot drop
upper limb weakness
more
Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Peripheral Nervous System:
hyporeflexia

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

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
Skeletal Muscle, Skin, Heart

Publications for Scapuloperoneal Myopathy, X-Linked Dominant

Articles related to Scapuloperoneal Myopathy, X-Linked Dominant:

(show all 31)
# Title Authors Year
1
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
2
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
3
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )
2012
4
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. ( 21372459 )
2011
5
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. ( 20175956 )
2010
6
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. ( 20149661 )
2010
7
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
8
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. ( 15880484 )
2005
9
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
10
CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. ( 12115980 )
2002
11
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. ( 12490172 )
2002
12
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. ( 12398842 )
2002
13
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. ( 11369194 )
2001
14
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. ( 11470279 )
2001
15
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. ( 11053683 )
2000
16
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. ( 11063761 )
2000
17
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. ( 10382910 )
1999
18
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. ( 10323252 )
1999
19
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. ( 10382909 )
1999
20
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. ( 10398203 )
1999
21
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ( 10480214 )
1999
22
60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. ( 10220867 )
1999
23
Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. ( 9608558 )
1998
24
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. ( 9608559 )
1998
25
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ( 9195226 )
1997
26
Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. ( 9160182 )
1997
27
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. ( 9132142 )
1997
28
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. ( 9266737 )
1997
29
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 8215002 )
1993
30
Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. ( 1686773 )
1991
31
Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. ( 2440002 )
1987

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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73 UMLS
74 UMLS via Orphanet
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