SPM
MCID: SCP009
MIFTS: 36

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 20 72 29 13 6 70
X-Linked Scapuloperoneal Muscular Dystrophy 20 58 6
Spm 57 20 72
Scapuloperoneal Myopathy, Fhl1-Related 57 20
X-Linked Scapuloperoneal Syndrome 20 58
X-Linked Spmd 20 58
Myopathy, Scapuloperoneal, X-Linked Dominant 39
X-Linked Dominant Scapuloperoneal Myopathy 20
X-Linked Emery-Dreifuss Muscular Dystrophy 70
Scapuloperoneal Myopathy Fhl1-Related 72

Characteristics:

Orphanet epidemiological data:

58
x-linked scapuloperoneal muscular dystrophy
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
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: 58  
Rare neurological diseases


Summaries for Scapuloperoneal Myopathy, X-Linked Dominant

GARD : 20 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 x-linked scapuloperoneal muscular dystrophy, is related to emery-dreifuss muscular dystrophy and myopathy, x-linked, with postural muscle atrophy, 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, and related phenotypes are flexion contracture and myopathy

UniProtKB/Swiss-Prot : 72 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.

More information 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 top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 29.9 FHL1 EMD
2 myopathy, x-linked, with postural muscle atrophy 29.9 FHL1 EMD
3 myopathy 29.8 FHL1 EMD
4 scapuloperoneal myopathy 11.2
5 niemann-pick disease 10.2
6 scapuloperoneal spinal muscular atrophy 10.2
7 niemann-pick disease, type c1 10.2
8 temporal lobe epilepsy 10.2
9 secondary progressive multiple sclerosis 10.2
10 mild cognitive impairment 10.2
11 dementia 10.2
12 emery-dreifuss muscular dystrophy 1, x-linked 10.1
13 yemenite deaf-blind hypopigmentation syndrome 10.1
14 frontotemporal dementia 10.0
15 alzheimer disease 10.0
16 multiple sclerosis 10.0
17 parkinson disease, late-onset 10.0
18 niemann-pick disease, type a 10.0
19 essential tremor 10.0
20 herpes simplex 10.0
21 encephalitis 10.0
22 tremor 10.0
23 amyotrophic lateral sclerosis 1 9.8
24 creutzfeldt-jakob disease 9.8
25 autism 9.8
26 ataxia and polyneuropathy, adult-onset 9.8
27 kearns-sayre syndrome 9.8
28 leukemia, acute myeloid 9.8
29 myopathy, tubular aggregate, 2 9.8
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
31 pulmonary hypertension 9.8
32 non-alcoholic fatty liver disease 9.8
33 neutropenia 9.8
34 miller fisher syndrome 9.8
35 dumping syndrome 9.8
36 olivopontocerebellar atrophy 9.8
37 epilepsy 9.8
38 lateral sclerosis 9.8
39 arthropathy 9.8
40 movement disease 9.8
41 pneumonia 9.8
42 arthritis 9.8
43 fatty liver disease 9.8
44 47,xyy 9.8
45 autoimmune encephalitis 9.8
46 cerebellar degeneration 9.8
47 charles bonnet syndrome 9.8
48 corticobasal degeneration 9.8
49 dentinogenesis imperfecta type 2 9.8
50 cerebral atrophy 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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 31 HP:0001371
2 myopathy 31 HP:0003198
3 skeletal muscle atrophy 31 HP:0003202
4 elevated serum creatine kinase 31 HP:0003236
5 waddling gait 31 HP:0002515
6 scapular winging 31 HP:0003691
7 arrhythmia 31 HP:0011675
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 lower limb muscle weakness 31 HP:0007340
14 scapuloperoneal myopathy 31 HP:0009054

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Skeletal Muscle

Publications for Scapuloperoneal Myopathy, X-Linked Dominant

Articles related to Scapuloperoneal Myopathy, X-Linked Dominant:

(show all 36)
# Title Authors PMID Year
1
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 57 6
19181672 2009
2
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 6 57
18179901 2008
3
Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice. 6
30260394 2019
4
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. 6
26675233 2016
5
Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties. 6
26415001 2015
6
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing. 6
26247046 2015
7
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. 6
25274776 2015
8
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. 6
25210889 2014
9
Emerin in health and disease. 6
24365856 2014
10
Contribution of SUN1 mutations to the pathomechanism in muscular dystrophies. 6
24375709 2014
11
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. 6
21629301 2011
12
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. 6
21697856 2011
13
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
14
Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 6
19997654 2009
15
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. 6
18179888 2008
16
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 6
18646565 2007
17
Limb-girdle muscular dystrophy due to emerin gene mutations. 6
17620497 2007
18
Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes. 6
17067998 2006
19
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 6
15967842 2005
20
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. 6
10393813 1999
21
A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations. 6
10399752 1999
22
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. 6
10480214 1999
23
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 6
10382909 1999
24
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. 6
10382910 1999
25
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 6
10323252 1999
26
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. 6
9536090 1998
27
Emerin deletions occurring on both Xq28 inversion backgrounds. 6
9384614 1998
28
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 6
9195226 1997
29
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. 6
8655156 1996
30
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. 57
8619529 1996
31
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 6
8589715 1996
32
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 6
8595407 1995
33
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. 6
8595406 1995
34
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. 6
8595433 1995
35
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 6
7894480 1994
36
Emery-Dreifuss syndrome. 61
3701378 1986

Variations for Scapuloperoneal Myopathy, X-Linked Dominant

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

6 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EMD EMD, 2-BP DEL, NT564 Deletion Pathogenic 11171 GRCh37:
GRCh38:
2 EMD EMD, 29-BP DEL, NT113 Deletion Pathogenic 11173 GRCh37:
GRCh38:
3 EMD EMD, 2-BP INS, NT198 Insertion Pathogenic 11174 GRCh37:
GRCh38:
4 EMD EMD, IVSAS, A-G, -3, 214-BP INS Insertion Pathogenic 11175 GRCh37:
GRCh38:
5 EMD NM_000117.2(EMD):c.130C>T (p.Gln44Ter) SNV Pathogenic 11176 rs132630262 GRCh37: X:153608097-153608097
GRCh38: X:154379737-154379737
6 EMD EMD, 1-BP DEL, FS236TER Deletion Pathogenic 11177 GRCh37:
GRCh38:
7 EMD NM_000117.2(EMD):c.547C>A (p.Pro183Thr) SNV Pathogenic 11179 rs104894806 GRCh37: X:153609339-153609339
GRCh38: X:154380979-154380979
8 EMD EMD, 5-BP DEL, NT631 Deletion Pathogenic 11180 GRCh37:
GRCh38:
9 EMD NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) SNV Pathogenic 409877 rs1060502612 GRCh37: X:153608090-153608090
GRCh38: X:154379730-154379730
10 EMD NC_000023.10:g.(?_154379237)_(154381523_?)del Deletion Pathogenic 433172 GRCh37: X:154379237-154381523
GRCh38:
11 EMD NM_000117.2(EMD):c.674_678del (p.Leu225fs) Deletion Pathogenic 433169 rs1557182692 GRCh37: X:153609466-153609470
GRCh38: X:154381106-154381110
12 EMD NM_000117.2(EMD):c.581_582del (p.Ser194fs) Deletion Pathogenic 531738 rs1557182654 GRCh37: X:153609373-153609374
GRCh38: X:154381013-154381014
13 EMD NM_000117.2(EMD):c.484C>T (p.Gln162Ter) SNV Pathogenic 498989 rs1557182611 GRCh37: X:153609276-153609276
GRCh38: X:154380916-154380916
14 EMD NM_000117.2(EMD):c.153dup (p.Ser52fs) Duplication Pathogenic 234991 rs876661345 GRCh37: X:153608114-153608115
GRCh38: X:154379754-154379755
15 EMD NM_000117.2(EMD):c.621del (p.Pro208fs) Deletion Pathogenic 433171 rs1557182670 GRCh37: X:153609412-153609412
GRCh38: X:154381052-154381052
16 EMD NM_000117.2(EMD):c.101dup (p.Tyr34Ter) Duplication Pathogenic 617762 rs1569552079 GRCh37: X:153608067-153608068
GRCh38: X:154379707-154379708
17 EMD NM_000117.2(EMD):c.600G>A (p.Trp200Ter) SNV Pathogenic 433174 rs1557182661 GRCh37: X:153609392-153609392
GRCh38: X:154381032-154381032
18 EMD NM_000117.2(EMD):c.430G>T (p.Glu144Ter) SNV Pathogenic 462824 rs1557182560 GRCh37: X:153609143-153609143
GRCh38: X:154380783-154380783
19 EMD NM_000117.2(EMD):c.607del (p.Arg203fs) Deletion Pathogenic 582473 rs1569552106 GRCh37: X:153609397-153609397
GRCh38: X:154381037-154381037
20 EMD NC_000023.10:g.(?_153607825)_(153609577_?)del Deletion Pathogenic 583878 GRCh37: X:153607825-153609577
GRCh38:
21 EMD NC_000023.10:g.(?_153609093)_(153609182_?)del Deletion Pathogenic 830683 GRCh37: X:153609093-153609182
GRCh38:
22 EMD NM_000117.2(EMD):c.187+1G>T SNV Pathogenic 201772 rs794729010 GRCh37: X:153608155-153608155
GRCh38: X:154379795-154379795
23 EMD NM_000117.3(EMD):c.83-2A>C SNV Pathogenic 857566 GRCh37: X:153608048-153608048
GRCh38: X:154379688-154379688
24 EMD NM_000117.3(EMD):c.475_476del (p.Ser159fs) Deletion Pathogenic 839321 GRCh37: X:153609267-153609268
GRCh38: X:154380907-154380908
25 EMD NM_000117.3(EMD):c.619del (p.Arg207fs) Deletion Pathogenic 942643 GRCh37: X:153609410-153609410
GRCh38: X:154381050-154381050
26 EMD NM_000117.2(EMD):c.251_255del (p.Leu84fs) Deletion Pathogenic 289486 rs782452523 GRCh37: X:153608362-153608366
GRCh38: X:154380002-154380006
27 EMD NM_000117.2(EMD):c.548C>A (p.Pro183His) SNV Pathogenic 11178 rs104894805 GRCh37: X:153609340-153609340
GRCh38: X:154380980-154380980
28 EMD NM_000117.3(EMD):c.82+1G>T SNV Pathogenic 433166 rs1557182214 GRCh37: X:153607927-153607927
GRCh38: X:154379567-154379567
29 EMD NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) SNV Pathogenic 462823 rs782011714 GRCh37: X:153607856-153607856
GRCh38: X:154379496-154379496
30 EMD NM_000117.3(EMD):c.77dup (p.Val27fs) Duplication Pathogenic 859127 GRCh37: X:153607920-153607921
GRCh38: X:154379560-154379561
31 EMD NM_000117.2(EMD):c.3G>A (p.Met1Ile) SNV Pathogenic 281087 rs886044771 GRCh37: X:153607847-153607847
GRCh38: X:154379487-154379487
32 FHL1 NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) SNV Pathogenic 11547 rs122458140 GRCh37: X:135289984-135289984
GRCh38: X:136207825-136207825
33 FHL1 NM_001159699.2(FHL1):c.428_430dup (p.Thr144_Cys145insIle) Duplication Pathogenic 11549 rs1603271580 GRCh37: X:135289998-135289999
GRCh38: X:136207839-136207840
34 EMD NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) SNV Pathogenic 804132 rs782011714 GRCh37: X:153607856-153607856
GRCh38: X:154379496-154379496
35 EMD NM_000117.2(EMD):c.60del (p.Asn20fs) Deletion Pathogenic 280697 rs886041854 GRCh37: X:153607904-153607904
GRCh38: X:154379544-154379544
36 EMD NM_000117.2(EMD):c.1A>G (p.Met1Val) SNV Pathogenic 11172 rs267606782 GRCh37: X:153607845-153607845
GRCh38: X:154379485-154379485
37 EMD NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs) Microsatellite Pathogenic 531732 rs1557182364 GRCh37: X:153608328-153608329
GRCh38: X:154379968-154379969
38 EMD NM_000117.2(EMD):c.135dup (p.Arg46fs) Duplication Pathogenic 531731 rs1557182301 GRCh37: X:153608100-153608101
GRCh38: X:154379740-154379741
39 overlap with 25 genes NC_000023.10:g.(?_152990712)_(153650075_?)del Deletion Pathogenic 665050 GRCh37: X:152990712-153650075
GRCh38:
40 EMD NM_000117.3(EMD):c.82+1G>A SNV Likely pathogenic 974879 GRCh37: X:153607927-153607927
GRCh38: X:154379567-154379567
41 EMD NM_000117.2(EMD):c.16del (p.Asp6fs) Deletion Likely pathogenic 617592 rs1569552076 GRCh37: X:153607860-153607860
GRCh38: X:154379500-154379500
42 FHL1 NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) SNV Likely pathogenic 689729 rs1603271659 GRCh37: X:135290067-135290067
GRCh38: X:136207908-136207908
43 FHL1 NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys) SNV Uncertain significance 816855 rs1603270381 GRCh37: X:135288572-135288572
GRCh38: X:136206413-136206413
44 EMD NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro) Indel Uncertain significance 834387 GRCh37: X:153607912-153607913
GRCh38: X:154379552-154379553
45 EMD NM_000117.3(EMD):c.77T>C (p.Val26Ala) SNV Uncertain significance 179659 rs727505029 GRCh37: X:153607921-153607921
GRCh38: X:154379561-154379561
46 EMD NM_000117.2(EMD):c.73C>A (p.Pro25Thr) SNV Uncertain significance 234992 rs876661346 GRCh37: X:153607917-153607917
GRCh38: X:154379557-154379557
47 EMD NM_000117.3(EMD):c.651G>A (p.Leu217=) SNV Uncertain significance 955640 GRCh37: X:153609443-153609443
GRCh38: X:154381083-154381083
48 EMD NM_000117.3(EMD):c.575C>T (p.Ser192Phe) SNV Uncertain significance 966245 GRCh37: X:153609367-153609367
GRCh38: X:154381007-154381007
49 EMD NM_000117.3(EMD):c.587C>T (p.Ser196Phe) SNV Uncertain significance 967061 GRCh37: X:153609379-153609379
GRCh38: X:154381019-154381019
50 EMD NM_000117.3(EMD):c.425C>T (p.Ser142Phe) SNV Uncertain significance 969819 GRCh37: X:153609138-153609138
GRCh38: X:154380778-154380778

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

72
# Symbol AA change Variation ID SNP ID
1 FHL1 p.Trp122Ser VAR_042603 rs122458140
2 FHL1 p.His154Pro VAR_076566

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

Biological processes related to Scapuloperoneal Myopathy, X-Linked Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 8.62 FHL1 EMD

Sources for Scapuloperoneal Myopathy, X-Linked Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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