MCID: DST004
MIFTS: 40

Distal Muscular Dystrophy malady

Categories: Muscle diseases

Aliases & Classifications for Distal Muscular Dystrophy

Aliases & Descriptions for Distal Muscular Dystrophy:

Name: Distal Muscular Dystrophy 12 52 14
Distal Myopathies 52 42
Distal Myopathy 12 29
Distal Muscular Dystrophies 69
Miyoshi Muscular Dystrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11720
ICD10 33 G71.0
MeSH 42 D049310
NCIt 47 C84675
SNOMED-CT 64 58795000
UMLS 69 C0751336

Summaries for Distal Muscular Dystrophy

MalaCards based summary : Distal Muscular Dystrophy, also known as distal myopathies, is related to liang distal myopathy and miyoshi muscular dystrophy 1, and has symptoms including myopathy An important gene associated with Distal Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Tacrolimus and Calcineurin Inhibitors have been mentioned in the context of this disorder. Related phenotypes are cardiovascular system and muscle

Wikipedia : 71 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... more...

Related Diseases for Distal Muscular Dystrophy

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

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 liang distal myopathy 12.3
2 miyoshi muscular dystrophy 1 10.9
3 welander distal myopathy 10.9
4 tibial muscular dystrophy, tardive 10.9
5 dysferlinopathy 10.9
6 muscular dystrophy 10.4
7 lumbar malsegmentation short stature 10.3 DMD DYSF
8 adrenal cortex disease 10.3 ANO5 DYSF
9 deafness, autosomal recessive 18b 10.2 ANO5 DYSF
10 ptosis 10.2 CAV3 DYSF
11 rippling muscle disease 10.2 CAV3 DYSF
12 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.2 CAV3 DYSF
13 facio digito genital syndrome recessive form 10.2 DES DMD
14 sdhc-related paraganglioma and gastric stromal sarcoma 10.2 DMD DYSF
15 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.2 DES DMD
16 dermatofibrosarcoma protuberans 10.2 DMD GNE
17 hypospadias 3, autosomal 10.2 CAV3 MYOT
18 cubitus valgus with mental retardation and unusual facies 10.1 DMD GNE
19 ceroid lipofuscinosis, neuronal, 2 10.1 DMD DYSF
20 childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.1 CAV3 MYH7
21 inflammatory bowel disease 14 10.1 DMD DYSF MYOT
22 congenital myopathy 10.1 DMD TTN
23 cardiomyopathy, dilated, 1i 10.1 DES MYOT
24 autoimmune thyroid disease 2 10.1 MYOT TTN
25 microcephaly and chorioretinopathy 2 10.1 DMD DYSF MYH7
26 cerebral hemorrhage 10.1 CAPN3 DYSF
27 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 CAV3 MYOT
28 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.0 CAPN3 DYSF
29 asthma-related traits 6 10.0 CAPN3 DYSF
30 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 10.0 DMD MYH7 MYOT
31 autosomal recessive limb-girdle muscular dystrophy type 2x 10.0 CAPN3 DYSF
32 microcephaly and chorioretinopathy 1 10.0 DMD MYH7
33 glycogen storage disease 0, muscle 10.0 CAV3 DMD
34 pfeiffer rockelein syndrome 10.0 MYH7 TTN
35 ehlers-danlos syndrome, kyphoscoliotic form 10.0 CAPN3 DYSF
36 thrombocytopenia, x-linked 10.0 DMD DYSF
37 creatine phosphokinase, elevated serum 10.0 CAV3 DYSF TTN
38 short-rib thoracic dysplasia 8 with or without polydactyly 10.0 CAV3 DES MYOT
39 pancreatic agenesis 1 10.0 CAPN3 DMD DYSF
40 epilepsy, generalized, with febrile seizures plus, type 1 10.0 DES MYH7 MYOT
41 immunodeficiency 34, mycobacteriosis, x-linked 10.0 CAV3 DMD TTN
42 pervasive developmental disorder 9.9 DMD MYH7 TTN
43 adams-oliver syndrome 2 9.9 DES DMD TTN
44 myelofibrosis 9.9 CAV3 TTN
45 neurodegeneration with brain iron accumulation 6 9.9 CAPN3 DYSF MYOT
46 familial partial lipodystrophy 9.9 DES DMD TTN
47 myopathy, spheroid body 9.9 CAPN3 CAV3 MYOT
48 ostertagiasis 9.9 DES MYH7 TTN
49 congenital heart defects, multiple types, 3 9.9 CAPN3 DYSF TTN
50 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 CAPN3 DYSF TTN

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



Diseases related to Distal Muscular Dystrophy

Symptoms & Phenotypes for Distal Muscular Dystrophy

Human phenotypes related to Distal Muscular Dystrophy:

32
id Description HPO Frequency HPO Source Accession
1 myopathy 32 HP:0003198

MGI Mouse Phenotypes related to Distal Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CAPN3 CAV3 DES DMD GNE MYH7
2 muscle MP:0005369 9.56 CAPN3 CAV3 DES DMD DYSF GNE
3 no phenotypic analysis MP:0003012 9.02 CAPN3 DMD DYSF MYH7 MYOT

Drugs & Therapeutics for Distal Muscular Dystrophy

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

(show top 50) (show all 68)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492
2 Calcineurin Inhibitors Phase 3
3 Immunosuppressive Agents Phase 3,Early Phase 1
4
Salicylic acid Approved, Vet_approved Phase 1, Phase 2 69-72-7 338
5
Bupivacaine Approved, Investigational Phase 2 2180-92-9, 38396-39-3 2474
6
Coal tar Approved Phase 2 8007-45-2
7
Halofuginone Investigational, Vet_approved Phase 2 55837-20-2 62894
8 Peripheral Nervous System Agents Phase 2,Early Phase 1
9
Alginic acid Phase 1, Phase 2 9005-32-7
10 Anesthetics Phase 2
11 Anesthetics, Local Phase 2
12 Central Nervous System Depressants Phase 2
13 Angiogenesis Inhibitors Phase 2
14 Angiogenesis Modulating Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Antiparasitic Agents Phase 2
17 Antiprotozoal Agents Phase 2
18 Antibodies Phase 1
19 gamma-Globulins Phase 1
20 Immunoglobulins Phase 1
21 Immunoglobulins, Intravenous Phase 1
22 Rho(D) Immune Globulin Phase 1
23
Adenosine Approved, Investigational 58-61-7 60961
24
Menthol Approved 2216-51-5 16666
25
Etanercept Approved, Investigational Early Phase 1 185243-69-0
26
Dronabinol Approved, Illicit 1972-08-3 16078 2978
27
Cyproheptadine Approved 129-03-3 2913
28
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
29
Benzocaine Approved 1994-09-7, 94-09-7 2337
30 tannic acid Approved, Nutraceutical
31
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
32
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
33 Analgesics Early Phase 1
34 Anti-Arrhythmia Agents
35 Neurotransmitter Agents
36 Vasodilator Agents
37 Analgesics, Non-Narcotic Early Phase 1
38 Anti-Inflammatory Agents Early Phase 1
39 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
40 Antirheumatic Agents Early Phase 1
41 Gastrointestinal Agents Early Phase 1
42 Cannabinoid Receptor Agonists
43 Hallucinogens
44 Hormone Antagonists
45 Hormones
46 Hormones, Hormone Substitutes, and Hormone Antagonists
47 Psychotropic Drugs
48 Anti-Allergic Agents
49 Antipruritics
50 Chelating Agents

Interventional clinical trials:

(show all 44)
id Name Status NCT ID Phase
1 Chronic Insertional Achilles Tendonitis Treated With or Without Flexor Hallucis Longus Tendon Transfer Completed NCT00950053 Phase 4
2 FK506 Phase 3 Study: a Study for Steroid Non-resistant Myasthenia Gravis (MG) Patients Completed NCT00309088 Phase 3
3 MEOPA to Improve Physical Therapy Results After Multilevel Surgery Completed NCT00632528 Phase 3
4 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Active, not recruiting NCT02377921 Phase 3
5 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Enrolling by invitation NCT02736188 Phase 3
6 Injectable Collagenase For Burns' Associated Contracture Unknown status NCT01237964 Phase 2
7 A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2
8 Treatment Outcomes for Temporomandibular Disorders (TMD) Via the Clayton Intra-aural Device (CID) Clinical Trial Completed NCT00815776 Phase 1, Phase 2
9 A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment Recruiting NCT02731690 Phase 2
10 Liposome Bupivacaine for WRIST Blocks Recruiting NCT03106519 Phase 2
11 HT-100 Long-term Study in DMD Patients Who Completed HALO-DMD-02 Enrolling by invitation NCT02525302 Phase 2
12 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
13 Pharmacokinetic Study on N-acetylneuraminic Acid Completed NCT01236898 Phase 1
14 Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1
15 Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1
16 Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1
17 Fibre Specific Signalling in the Locomotor Myopathy of Chronic Obstructive Pulmonary Disease Unknown status NCT01471587
18 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
19 Effect of Distal Needling on Knee Pain Using Acupuncture Techniques Unknown status NCT01612663
20 Wrist Extension Dynasplint (WED) Distal Radius Fracture Unknown status NCT01589627
21 Upper Limb Assessment in Duchenne Muscular Dystrophy Unknown status NCT02436720
22 The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular Dystrophy Completed NCT01895283
23 Natural History in CCFDN and IBM Syndromes Completed NCT01902940
24 Double-blind, Randomized, Placebo-controlled Trial of Etanercept for 12 Months in Subjects With Inclusion Body Myositis Completed NCT00802815 Early Phase 1
25 Neuromuscular Transmission in Amyotrophic Lateral Sclerosis Completed NCT00847847
26 Eccentric Exercise in Treatment of Achilles Tendinopathy Completed NCT03089008
27 Stimulating Self Management in Patients With Fibromyalgia Through Web-based Situational Feedback Completed NCT01236209
28 Randomized Placebo-Controlled Crossover Trial With THC (Delta 9-Tetrahydrocannabinol) for the Treatment of Cramps in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00812851
29 GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Recruiting NCT01784679
30 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533
31 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302
32 MYOPROSP - a Prospective Cohort Study in Myositis Recruiting NCT02468895
33 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741
34 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244
35 Altering Activation Patterns Post-stroke Recruiting NCT02418949
36 User-centred Assistive System for Arm Functions in Neuromuscular Subjects Recruiting NCT03127241
37 The Effect Of Stretching Exercise on Pectoralis Minor Myofascial Latent Trigger Points Enrolling by invitation NCT02699294
38 A Randomized Trial Measuring the Effect of Decision Aids on Patients' Satisfaction, Conflict of Decision-making and Clinical Outcome Enrolling by invitation NCT01693094
39 Pharmacoepidemiologic General Research Extension: PGRx-sIBM Study Not yet recruiting NCT02735447
40 Graded Motor Imagery for Women at Risk for Developing Type I CRPS Following Closed Treatment of Distal Radius Fractures Not yet recruiting NCT02957240
41 Shock-Waves to Treat Fibromyalgia Pain Not yet recruiting NCT03088215
42 Combined Antagonistic Muscle Magnetic Stimulation and Selective Periferal Neurotomy to Improve Results on Spasticity Not yet recruiting NCT02226432
43 Vitamin D for Painful Nocturnal Leg Cramps Terminated NCT00715429
44 Effect of Pre-emptive Transcutaneous Neuro-muscular Electrical Stimulation for Dysphagia in Long Term Intubated Patients Withdrawn NCT01202968

Search NIH Clinical Center for Distal Muscular Dystrophy

Cochrane evidence based reviews: distal myopathies

Genetic Tests for Distal Muscular Dystrophy

Genetic tests related to Distal Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Distal Myopathy 29

Anatomical Context for Distal Muscular Dystrophy

Publications for Distal Muscular Dystrophy

Articles related to Distal Muscular Dystrophy:

(show all 21)
id Title Authors Year
1
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. ( 23530687 )
2013
2
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. ( 22980764 )
2012
3
Early onset distal muscular dystrophy with normal dysferlin expression. ( 16310593 )
2005
4
[A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers]. ( 15568488 )
2004
5
Distal muscular dystrophy of the Miyoshi type. ( 12908758 )
2003
6
Late-onset distal muscular dystrophy affecting the posterior calves. ( 14506716 )
2003
7
An autosomal dominant early adult-onset distal muscular dystrophy. ( 11102913 )
2000
8
Characteristic form of standing up from squatting in Miyoshi's distal muscular dystrophy. ( 10622454 )
1999
9
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. ( 9673985 )
1998
10
Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature. ( 9007741 )
1997
11
Autosomal recessive distal muscular dystrophy. ( 9412850 )
1997
12
Distal muscular dystrophy. Case reports. ( 9208214 )
1997
13
Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. ( 9397016 )
1997
14
Early onset distal muscular dystrophy. ( 7573762 )
1995
15
Two patients with distal muscular dystrophy and autonomic nerve dysfunction. ( 8059932 )
1994
16
Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. ( 7836950 )
1994
17
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. ( 3942856 )
1986
18
Distal muscular dystrophy. ( 4058478 )
1985
19
Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. ( 3985587 )
1985
20
Distal muscular dystrophy with autosomal recessive inheritance. ( 6543900 )
1984
21
Distal muscular dystrophy in an English family. ( 5552164 )
1971

Variations for Distal Muscular Dystrophy

Expression for Distal Muscular Dystrophy

Search GEO for disease gene expression data for Distal Muscular Dystrophy.

Pathways for Distal Muscular Dystrophy

GO Terms for Distal Muscular Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 9.43 CAV3 DES
2 myofibril GO:0030016 9.43 CAPN3 DMD MYH7
3 intercalated disc GO:0014704 9.4 CAV3 DES
4 muscle myosin complex GO:0005859 9.37 MYH7 TTN
5 sarcolemma GO:0042383 9.35 CAV3 DES DMD DYSF MYOT
6 T-tubule GO:0030315 9.33 CAPN3 CAV3 DYSF
7 dystrophin-associated glycoprotein complex GO:0016010 9.32 CAV3 DMD
8 Z disc GO:0030018 9.17 CAPN3 CAV3 DES DMD MYH7 MYOT

Biological processes related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.65 CAPN3 CAV3 DMD
2 cardiac muscle contraction GO:0060048 9.54 DMD MYH7 TTN
3 sarcomere organization GO:0045214 9.52 CAPN3 TTN
4 regulation of heart contraction GO:0008016 9.51 CAV3 DES
5 striated muscle contraction GO:0006941 9.49 MYH7 TTN
6 plasma membrane repair GO:0001778 9.46 CAV3 DYSF
7 nucleus localization GO:0051647 9.43 CAV3 DMD
8 regulation of heart rate GO:0002027 9.43 CAV3 DMD MYH7
9 detection of muscle stretch GO:0035995 9.4 CAV3 TTN
10 muscle cell cellular homeostasis GO:0046716 9.33 CAPN3 CAV3 DMD
11 regulation of skeletal muscle contraction GO:0014819 9.32 CAV3 DMD
12 muscle filament sliding GO:0030049 9.26 DES DMD MYH7 TTN
13 muscle contraction GO:0006936 9.1 CAV3 DES DYSF MYH7 MYOT TTN

Molecular functions related to Distal Muscular Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein complex scaffold GO:0032947 9.16 CAPN3 CAV3
2 nitric-oxide synthase binding GO:0050998 8.96 CAV3 DMD
3 structural constituent of muscle GO:0008307 8.92 CAPN3 DMD MYOT TTN

Sources for Distal Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....