MCID: MYS033
MIFTS: 38

Miyoshi Muscular Dystrophy 1 malady

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

Aliases & Classifications for Miyoshi Muscular Dystrophy 1

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Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 24GTR, 23Genetics Home Reference, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Miyoshi Muscular Dystrophy 1:

Name: Miyoshi Muscular Dystrophy 1 49 11 67 24
Miyoshi Myopathy 45 22 23 47 51 67 24 65
Miyoshi Distal Myopathy 45 22 23
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 45
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 67
 
Distal Muscular Dystrophy, Miyoshi Type 23
Miyoshi Muscular Dystrophy 23
Mmd1 67
Mmd 23
Mm 45

Characteristics:

Orphanet epidemiological data:

51
miyoshi myopathy:
Prevalence: 1-9/1000000 (Japan); Age of onset: Adult

HPO:

61
miyoshi muscular dystrophy 1:
Onset and clinical course: adult onset
Inheritance: heterogeneous, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 254130
Orphanet51 45448
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 C537480
UMLS via Orphanet66 C1850808
MedGen34 C1850808
MeSH36 D049310
UMLS65 C1850808

Summaries for Miyoshi Muscular Dystrophy 1

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OMIM:49 Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood... (254130) more...

MalaCards based summary: Miyoshi Muscular Dystrophy 1, also known as miyoshi myopathy, is related to miyoshi muscular dystrophy 3 and miyoshi muscular dystrophy 2, and has symptoms including decreased/absent ankle reflexes, muscle fibrillation and decreased achilles reflex. An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin). Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.

NIH Rare Diseases:45 Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs. the first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. over a period of years, the weakness and atrophy typically spread to the thighs and gluteal muscles. the forearms may become mildly atrophic with decrease in grip strength. it is caused by mutations in the dysf gene and is inherited in an autosomal recessive manner. management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support. last updated: 4/5/2011

UniProtKB/Swiss-Prot:67 Miyoshi muscular dystrophy 1: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood.

Genetics Home Reference:23 Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.

Related Diseases for Miyoshi Muscular Dystrophy 1

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Diseases in the Miyoshi Muscular Dystrophy 1 family:

Miyoshi Muscular Dystrophy 2 Miyoshi Muscular Dystrophy 3

Diseases related to Miyoshi Muscular Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 232)
idRelated DiseaseScoreTop Affiliating Genes
1miyoshi muscular dystrophy 312.9
2miyoshi muscular dystrophy 212.6
3distal anoctaminopathy11.7
4multiple mitochondrial dysfunctions syndrome11.7
5distal muscular dystrophy11.6
6multiminicore disease11.5
7multiple myeloma11.3
8medial medullary syndrome11.3
9multiple mitochondrial dysfunctions syndrome 111.3
10classic multiminicore myopathy11.3
11methylmalonic aciduria and homocystinuria, cblc type11.2
12tyrosinemia, type ii11.2
13transcobalamin ii deficiency11.2
14female stress incontinence11.2
15osmotic diarrhea11.2
163-methylcrotonyl-coa carboxylase deficiency11.2
17histidinemia11.2
18phaeohyphomycosis11.2
19hemopneumothorax11.2
20skull base meningioma11.2
21intraocular retinoblastoma11.2
22sleep disorder11.2
23inherited metabolic disorder11.2
24amino acid metabolic disorder11.2
25histidine metabolism disease11.2
26dysferlinopathy10.6
27minicore myopathy with external ophthalmoplegia10.5
28microphthalmia, isolated 610.4
29emery-dreifuss muscular dystrophy, dominant type10.4
30emery-dreifuss muscular dystrophy, x-linked10.4
31ischemic heart disease10.4
32good syndrome10.4
33diarrhea10.4
34pneumonia10.4
35osteochondritis dissecans10.3
36lymphoma10.3
37mitral valve prolapse, myxomatous 210.3
38microcoria, congenital10.3
39megalocornea 1, x-linked10.3
40choroid disease10.3
41purpura10.3
42hyperlipidemia type 310.3
43leukemia10.2
44retinitis10.1
45thyroiditis10.1
46cataract 1, multiple types10.1
47cataract 2, multiple types10.1
48glaucoma 1, open angle, p10.1
49cataract 21, multiple types10.1
50microcornea, myopic chorioretinal atrophy, and telecanthus10.1

Graphical network of the top 20 diseases related to Miyoshi Muscular Dystrophy 1:



Diseases related to miyoshi muscular dystrophy 1

Symptoms for Miyoshi Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

254130

Clinical features from OMIM:

254130

HPO human phenotypes related to Miyoshi Muscular Dystrophy 1:

(show all 10)
id Description Frequency HPO Source Accession
1 decreased/absent ankle reflexes HP:0200101
2 muscle fibrillation HP:0010546
3 decreased achilles reflex HP:0009072
4 lower limb muscle weakness HP:0007340
5 deposits immunoreactive to beta-amyloid protein HP:0003791
6 distal amyotrophy HP:0003693
7 muscular dystrophy HP:0003560
8 difficulty climbing stairs HP:0003551
9 elevated serum creatine phosphokinase HP:0003236
10 distal muscle weakness HP:0002460

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 1

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Drugs for Miyoshi Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunosuppressive AgentsPhase 2, Phase 310422
2Anti-Inflammatory AgentsPhase 2, Phase 38478
3Immunologic FactorsPhase 2, Phase 318483
4DeflazacortPhase 2, Phase 31214484-47-0
5VaccinesPhase 16085

Interventional clinical trials:

idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2rAAVrh74.MHCK7.DYSF.DV for Treatment of DysferlinopathiesRecruitingNCT02710500Phase 1
3Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
4Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular DisordersRecruitingNCT01459302
5Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077

Search NIH Clinical Center for Miyoshi Muscular Dystrophy 1

Genetic Tests for Miyoshi Muscular Dystrophy 1

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Genetic tests related to Miyoshi Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Miyoshi Distal Myopathy22

Anatomical Context for Miyoshi Muscular Dystrophy 1

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MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

33
Skeletal muscle

Animal Models for Miyoshi Muscular Dystrophy 1 or affiliated genes

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MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2CAPN3, CHKB, DYSF, MYOF

Publications for Miyoshi Muscular Dystrophy 1

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Variations for Miyoshi Muscular Dystrophy 1

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UniProtKB/Swiss-Prot genetic disease variations for Miyoshi Muscular Dystrophy 1:

67 (show all 32)
id Symbol AA change Variation ID SNP ID
1DYSFp.Pro791ArgVAR_012308
2DYSFp.Ile1298ValVAR_012309rs121908954
3DYSFp.His1857ArgVAR_012310
4DYSFp.Arg2042CysVAR_012311
5DYSFp.Ala170GluVAR_024853rs34999029
6DYSFp.Gly299GluVAR_024857
7DYSFp.Cys456TrpVAR_024858
8DYSFp.Arg555TrpVAR_024859
9DYSFp.Arg959TrpVAR_024860
10DYSFp.Arg1046HisVAR_024863rs28939700
11DYSFp.Glu1335LysVAR_024868
12DYSFp.Arg1693GlnVAR_024870
13DYSFp.Arg2000GlnVAR_024872rs115407852
14DYSFp.Val67AspVAR_057835
15DYSFp.Gly299TrpVAR_057841
16DYSFp.Glu389GlnVAR_057846
17DYSFp.Gly426ArgVAR_057848
18DYSFp.Gly426ValVAR_057849
19DYSFp.Gly519ArgVAR_057850
20DYSFp.Gly618ArgVAR_057851
21DYSFp.Trp999CysVAR_057857rs28937581
22DYSFp.Pro1029LeuVAR_057858
23DYSFp.Arg1041CysVAR_057859
24DYSFp.Cys1361ArgVAR_057863
25DYSFp.Thr1662ArgVAR_057868
26DYSFp.Gly1679GluVAR_057870
27DYSFp.Arg1693TrpVAR_057871
28DYSFp.Asp1837AsnVAR_057874
29DYSFp.Gly1842AspVAR_057875
30DYSFp.Leu1922ProVAR_057876
31DYSFp.Cys1942GlyVAR_057878
32DYSFp.Pro2068LeuVAR_057881

Clinvar genetic disease variations for Miyoshi Muscular Dystrophy 1:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_003494.3(DYSF): c.1956G> A (p.Trp652Ter)single nucleotide variantPathogenicrs794727343GRCh37Chr 2, 71780962: 71780962
2DYSFNM_003494.3(DYSF): c.3230G> A (p.Trp1077Ter)single nucleotide variantPathogenicrs794727534GRCh37Chr 2, 71801383: 71801383
3DYSFNM_003494.3(DYSF): c.265C> T (p.Arg89Ter)single nucleotide variantPathogenicrs794727636GRCh37Chr 2, 71730372: 71730372
4DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionLikely pathogenic, Pathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
5DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionLikely pathogenic, Pathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
6DYSFNM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter)single nucleotide variantPathogenicrs121908953GRCh37Chr 2, 71780201: 71780201
7DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
8DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
9DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
10DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
11DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)single nucleotide variantPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
12DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)single nucleotide variantPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
13DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
14DYSFNM_001130978.1(DYSF): c.1555G> A (p.Gly519Arg)single nucleotide variantPathogenicrs121908962GRCh37Chr 2, 71778203: 71778203
15DYSFNM_001130978.1(DYSF): c.895G> T (p.Gly299Trp)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
16DYSFNM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter)single nucleotide variantPathogenicrs398123789GRCh37Chr 2, 71886125: 71886125

Expression for genes affiliated with Miyoshi Muscular Dystrophy 1

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Search GEO for disease gene expression data for Miyoshi Muscular Dystrophy 1.

Pathways for genes affiliated with Miyoshi Muscular Dystrophy 1

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GO Terms for genes affiliated with Miyoshi Muscular Dystrophy 1

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Cellular components related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.2CAPN3, DYSF

Sources for Miyoshi Muscular Dystrophy 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet