Scapuloperoneal Myopathy, X-Linked Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SCP009 MIFTS: 32	Scapuloperoneal Myopathy, X-Linked Dominant Categories: Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Muscle diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁵

Rare neurological diseases

External Ids:

OMIM ⁵³ 300695

Orphanet ⁵⁵ ORPHA431272

ICD10 via Orphanet ³³ G71.0

MedGen ³⁹ C2678061

MeSH ⁴¹ D020389

UMLS ⁶⁹ C0751337 C2678061

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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

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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
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:

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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 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

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Drugs & Therapeutics for Scapuloperoneal Myopathy, X-Linked Dominant

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

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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

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Anatomical Context for Scapuloperoneal Myopathy, X-Linked Dominant

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

³⁸

Skeletal Muscle

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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 )	Rajagopalan V....Pioro E.P.	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 )	Cano S....Watson C.	2015
3	Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )	Morris G.E.	2015
4	Development of A Screening Tool to Support Identification of Patients With Secondary Progressive Multiple Sclerosis (Spms). ( 26534272 )	Ziemssen T....Verdun di Cantogno E.	2015
5	Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )	Meinke P....Walter M.C.	2015
6	Quantification of Global Cerebral Atrophy in Multiple Sclerosis from 3T MRI Using SPM: The Role of Misclassification Errors. ( 25523616 )	Dell'Oglio E....Neema M.	2015
7	Validation of an optimized SPM procedure for FDG-PET in dementia diagnosis in a clinical setting. ( 25389519 )	Perani D....Gianolli L.	2014
8	Differences in cerebral perfusion according to phenotypes of essential tremor: brain perfusion SPECT study using SPM analysis. ( 24337969 )	Song I.U....Chung Y.A.	2013
9	Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )	Carboni N....Marrosu M.G.	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 )	Jang J.W....Kwon O.S.	2011
11	Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. ( 21372459 )	Ishikawa K....Tanaka T.	2011
12	X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. ( 20175956 )	Fidzianska A....Wehnert M.	2010
13	Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. ( 20149661 )	Nigro G....Politano L.	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 )	Marra M....Caraglia M.	2008
15	18F-FP-CIT PET imaging and SPM analysis of dopamine transporters in Parkinson's disease in various Hoehn & Yahr stages. ( 17334953 )	Wang J....Su H.L.	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 )	Wheeler M.A....Ellis J.A.	2007
17	A case of Bickerstaff's brainstem encephalitis; the evidence of cerebellum involvement by SPM analysis using PET. ( 16644411 )	Kwon H.M....Lee K.W.	2006
18	X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. ( 15880484 )	Paradas C....Illa I.	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 )	Vytopil M....Lukas Z.	2004
20	Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. ( 12398842 )	Talkop U.A....Talvik T.	2002
21	CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. ( 12115980 )	Tsukahara T....Arahata K.	2002
22	(18)F-FDG PET in localization of frontal lobe epilepsy: comparison of visual and SPM analysis. ( 12215554 )	Kim Y.K....Lee M.C.	2002
23	Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. ( 12490172 )	Markiewicz E....Hutchison C.	2002
24	Establishment and characterization of immortalized Schwann cells from murine model of Niemann-Pick disease type C (spm/spm). ( 11446388 )	Watabe K....Eto Y.	2001
25	Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. ( 11470279 )	WOLFF N....Zinn-Justin S.	2001
26	A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. ( 11369194 )	Vohanka S....Toniolo D.	2001
27	Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. ( 11063761 )	Canki-Klain N....Zurak N.	2000
28	Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. ( 11053683 )	Di Blasi C....Mora M.	2000
29	Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. ( 10323252 )	Ellis J.A....Brown C.A.	1999
30	Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. ( 10382910 )	Hoeltzenbein M....Wehnert M.S.	1999
31	60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. ( 10220867 )	Wehnert M....Muntoni F.	1999
32	Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. ( 10398203 )	Ognibene A....Maraldi N.M.	1999
33	Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ( 10480214 )	Fujimoto S....Nonaka I.	1999
34	Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. ( 10382909 )	Yates J.R....Ellis J.A.	1999
35	Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. ( 9608558 )	Sabatelli P....Maraldi N.M.	1998
36	Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. ( 9608559 )	Muntoni F....Dubowitz V.	1998
37	Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ( 9195226 )	Wulff K....Wehnert M.	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 )	Akaboshi S....Takeshita K.	1997
39	X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. ( 9266737 )	Mora M....Toniolo D.	1997
40	Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. ( 9132142 )	Manilal S....Morris G.E.	1997
41	Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. ( 9160182 )	Wulff K....Wehnert M.	1997
42	Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 8215002 )	Fishbein M.C....Hopkins L.C.	1993
43	Nitric oxide liberating, soluble guanylate cyclase stimulating and vasorelaxing properties of the new nitrate-compound SPM 3672. ( 7690081 )	Kojda G....Noack E.	1993
44	Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. ( 1686773 )	Wehnert M....Herrmann F.H.	1991
45	Allogeneic bone marrow-plus-liver transplantation in the C57BL/KsJ spm/spm mouse, an animal model of Niemann-Pick disease. ( 2139261 )	Yasumizu R....Ikehara S.	1990
46	Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. ( 2440002 )	Wyse D.G....Brownell A.K.	1987
47	A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice. ( 3559164 )	Miyawaki S....Ikehara S.	1986

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Genes for Scapuloperoneal Myopathy, X-Linked Dominant

Genes related to Scapuloperoneal Myopathy, X-Linked Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	FHL1	Four And A Half LIM Domains 1	Protein Coding	1679.55	Molecular basis known ⁵³ Pathogenic ⁶ Causative germline mutation ⁵⁵ Causative variation ⁷¹ Genetic Tests ²⁸ GeneCards inferred via : Disorders Variants (show sections)	18179901 19181672 25274776 (more) 25173338 18179888 21629301

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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

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Expression for Scapuloperoneal Myopathy, X-Linked Dominant

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

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Pathways for Scapuloperoneal Myopathy, X-Linked Dominant

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GO Terms for Scapuloperoneal Myopathy, X-Linked Dominant

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Sources for Scapuloperoneal Myopathy, X-Linked Dominant

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¹⁹ GeneAnalytics

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²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

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⁴¹ MeSH

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⁶⁷ TGDB

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⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia