MCID: NRM005
MIFTS: 55

Neuromuscular Disease malady

Nephrological diseases, Neuronal diseases categories

Summaries for Neuromuscular Disease

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8Disease Ontology, 33MedlinePlus, 63Wikipedia, 32MalaCards
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MedlinePlus:33 Neuromuscular disorders affect the nerves that control your voluntary muscles. voluntary muscles are the ones you can control, like in your arms and legs. your nerve cells, also called neurons, send the messages that control these muscles. when the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. as a result, your muscles weaken and waste away. the weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. sometimes it also affects heart function and your ability to breathe. examples of neuromuscular disorders include amyotrophic lateral sclerosis multiple sclerosis myasthenia gravis spinal muscular atrophy many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. sometimes, an immune system disorder can cause them. most of them have no cure. the goal of treatment is to improve symptoms, increase mobility and lengthen life.

MalaCards: Neuromuscular Disease, also known as neuromuscular disorders, is related to respiratory failure and muscular dystrophy. An important gene associated with Neuromuscular Disease is HSPB8 (heat shock 22kDa protein 8). The compounds propionate and dantrolene have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and testes, and related mouse phenotypes are cellular and cardiovascular system.

Disease Ontology:8 A neuropathy that affect the nerves that control the voluntary muscles.

Wikipedia:63 Neuromuscular disease is a very broad term that encompasses many diseases and ailments that impair the... more...

Aliases & Classifications for Neuromuscular Disease

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Sources:
8Disease Ontology, 63Wikipedia, 33MedlinePlus, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases, Neuronal diseases


Aliases & Descriptions:

neuromuscular disease 8
neuromuscular disorders 63 33
neuromuscular diseases 44 60


External Ids:

Disease Ontology8 DOID:440
MeSH34 D009468
ICD9CM27 358, 358.9
ICD1025 N31.9

Related Diseases for Neuromuscular Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Neuromuscular Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1respiratory failure30.8RYR1, GAA
2muscular dystrophy30.5CAV3, GAA, DMPK, DES, SYNC, MYOT
3duchenne muscular dystrophy30.4CAV3, MB, GAA, DES, TCAP, MSTN
4myasthenia gravis30.3RYR1
5muscular atrophy30.2NAIP
6amyotrophic lateral sclerosis30.2NAIP, DCTN1, MB
7malignant hyperthermia30.0AMPD1, MB, RYR1
8neuropathy30.0MYOT, EMD, RYR1, MSTN, PABPN1, DMPK
9centronuclear myopathy29.8DES, RYR1
10myopathy congenital29.8RYR1, DES, GAA
11myofibrillar myopathy29.8SYNC, DES
12nemaline myopathy29.8DES, MYOT, RYR1
13myositis29.8MB, RYR1, MSTN
14emery-dreifuss muscular dystrophy29.8EMD, SUN2
15mitochondrial disorders29.8RYR1, MSTN
16myopathy29.8HSPB8, AMPD1, CAV3, MB, CS, GAA
17sleep disorder10.4
18diaphragm disease10.2
19congenital neuromuscular disease with uniform type 1 fiber10.2
20lateral sclerosis10.2
21neuromuscular junction disease10.2
22spinal muscular atrophy10.2
23neurologic diseases10.2
24kearns-sayre syndrome10.1
25cholestasis10.1
26hyperinsulinism10.1
27adenoma10.1
28pancreatitis10.1
29hereditary ataxia10.1
30piriformis syndrome10.1
31burns10.0
32adult syndrome10.0
33laryngeal disease10.0
34laryngitis10.0
35myotonic disease10.0
36myotonic dystrophy10.0
37spinal cord disease10.0
38hypertrophic cardiomyopathy10.0GAA
39dysphagia10.0PABPN1
40limb-girdle muscular dystrophy, type 1a10.0CAV3, MYOT, TCAP
41familial hypertrophic cardiomyopathy10.0TCAP, CAV3
42rippling muscle disease10.0CAV3
43limb-girdle muscular dystrophy, type 2b10.0TCAP, MYOT, CAV3
44calpainopathy10.0TCAP, MYOT, CAV3
45spheroid body myopathy10.0MYOT, DES
46rigid spine syndrome10.0GAA
47oculopharyngeal muscular dystrophy10.0PABPN1, GAA
48polymyositis10.0MB, GAA
49limb-girdle muscular dystrophy10.0CAV3, MYOT, EMD, TCAP
50limb-girdle muscular dystrophy type 1c10.0MSTN, CAV3

Graphical network of the top 20 diseases related to Neuromuscular Disease:



Diseases related to neuromuscular disease

Clinical Features for Neuromuscular Disease

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Drugs & Therapeutics for Neuromuscular Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Neuromuscular Disease

Drug clinical trials:

Search ClinicalTrials for Neuromuscular Disease

Search NIH Clinical Center for Neuromuscular Disease

Search CenterWatch for Neuromuscular Disease

Genetic Tests for Neuromuscular Disease

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Anatomical Context for Neuromuscular Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Neuromuscular Disease:

32
Heart, Skeletal muscle, Testes, Lung, Bone, Spinal cord, Smooth muscle, Thyroid, Breast, Skin, Brain, T cells

Animal Models for Neuromuscular Disease or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Neuromuscular Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.9CAV3, MB, GAA, DCTN1, EMD, NAIP
2MP:00053859.8HSPB8, CAV3, MB, GAA, DMPK, DES
3MP:00053699.7SUN2, HSPB8, CA3, CAV3, MB, GAA
4MP:00053769.4GAA, MB, GNRHR, CAV3, HSPB8, DMPK

Publications for Neuromuscular Disease

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Sources:
50PubMed
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Articles related to Neuromuscular Disease:

(show top 50)    (show all 579)
idTitleAuthorsYear
1
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy. (23729582)
2013
2
Vitamin D Deficiency in Patients With Neuromuscular Diseases With Chronic Respiratory Failure. (23753994)
2013
3
Ta88 mapping provides multiple approaches for the characterization of muscle involvement in neuromuscular diseases: a cross-sectional study of lower leg muscles in 5-15-year-old boys with Duchenne muscular dystrophy. (23044995)
2013
4
Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases. (24151818)
2013
5
New calcium channel agonists as potential therapeutics in Lambert-Eaton myasthenic syndrome and other neuromuscular diseases. (23278582)
2012
6
The New Zealand Neuromuscular Disease Registry. (22999565)
2012
7
Neuromuscular junction disease or neuropathic disorder? (20581646)
2010
8
Microvasculopathic neuromuscular diseases: lessons from hypoxia-inducible factors. (20122829)
2010
9
Novel methods of ambulatory physiologic monitoring in patients with neuromuscular disease. (19420155)
2009
10
Devastation of bone tissue in the appendicular skeleton parallels the progression of neuromuscular disease. (19949279)
2009
11
A deletion mutation in Slc12a6 is associated with neuromuscular disease in gaxp mice. (18343091)
2008
12
Avoidance of tracheostomy in patients with neuromuscular disease. (19029236)
2008
13
Paraneoplastic neuromuscular disease in lung large cell neuroendocrine carcinoma. (18973075)
2008
14
Noncompaction and neuromuscular disease with positive troponin-T in a nonagenerian. (17929284)
2007
15
Referral of patients with neuromuscular disease to occupational therapy, physical therapy and speech therapy: usual practice versus multidisciplinary advice. (17453993)
2007
16
Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease. (16769874)
2006
17
Spinal decompensation in neuromuscular disease. (16582838)
2006
18
Pain and neuromuscular disease: the results of a survey. (16924188)
2006
19
Neuromuscular junction autoimmune disease: muscle specific kinase antibodies and treatments for myasthenia gravis. (16155434)
2005
20
Ethical aspects of home long term ventilation in children with neuromuscular disease. (16153570)
2005
21
Pulmonary complications of neuromuscular disease. (15029630)
2004
22
Toxic RNA in the nucleus: unstable microsatellite expression in neuromuscular disease. (15113079)
2004
23
Advances in neuroimmunological laboratory studies on neuromuscular diseases]. (15552936)
2004
24
Polysomnography in chronic neuromuscular disease. (14512668)
2003
25
A familial degenerative neuromuscular disease of Gelbvieh cattle. (11939335)
2002
26
Hawaii's Neuromuscular Disease Biopsy Registry. A quarter-century compilation of muscle biopsy diagnoses in Hawaii. (12192999)
2002
27
Sleep-disordered Breathing in Neuromuscular Disease. (11827642)
2002
28
Pulmonary function testing in neuromuscular disease. (11787664)
2001
29
Regionalized neurofilament accumulation and motoneuron degeneration are linked phenotypes in wobbler neuromuscular disease. (11493023)
2001
30
Neuromuscular function of the human lower oesophageal sphincter in reflux disease and Barrett's oesophagus. (10807884)
2000
31
Electrodiagnosis in neuromuscular disease. (9894135)
1998
32
Flexible DNA: genetically unstable CTG.CAG and CGG.CCG from human hereditary neuromuscular disease genes. (9201983)
1997
33
Critical illness neuromuscular disease in children manifested as ventilatory dependence. (7844674)
1995
34
Height measurement of patients with neuromuscular disease and contractures. (1544515)
1992
35
Malignant hyperthermia and neuromuscular disease. (1483040)
1992
36
Neuromuscular disease of the gastrointestinal tract. (2000894)
1991
37
Autosomal dominant neuromuscular disease with cylindrical spirals. (1822355)
1991
38
Ultrasound guided needle biopsy of skeletal muscle in neuromuscular disease. (2206699)
1990
39
Gait analysis in neuromuscular disease. (2186120)
1990
40
Patterns of selective involvement of thigh muscles in neuromuscular disease. (3237239)
1988
41
Congenital and acquired neuromuscular disease of young dogs and cats. (3300000)
1987
42
Home negative pressure ventilation: report of 20 years of experience in patients with neuromuscular disease. (3885906)
1985
43
A suspected inherited neuromuscular disease in Dorset Down sheep. (16031104)
1985
44
Multiple myeloma occurring in association with a preexisting neuromuscular disease (progressive muscular dystrophy). A chance occurrence or a nosological entity? (6437121)
1984
45
The assessment of muscle mass in progressive neuromuscular disease. (6681656)
1983
46
Physical models of rehabilitation in neuromuscular disease. (6888414)
1983
47
"Untreatable" neuromuscular disease. Treatment trials and symptomatic treatment of amyotrophic lateral sclerosis. (6348186)
1983
48
Orthopaedic management of childhood neuromuscular disease. Part II: peripheral neuropathies, Friedreich's ataxia, and arthrogryposis multiplex congenita. (6282888)
1982
49
Club foot: a neuromuscular disease. (7106401)
1982
50
Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration. (7119813)
1982

Genetic Variations for Neuromuscular Disease

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Expression for genes affiliated with Neuromuscular Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuromuscular Disease

Search GEO for disease gene expression data for Neuromuscular Disease.

Pathways for genes affiliated with Neuromuscular Disease

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Compounds for genes affiliated with Neuromuscular Disease

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB, 49PharmGKB
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Compounds related to Neuromuscular Disease according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1propionate4410.6MB, CS, RYR1
2dantrolene44 28 1112.6RYR1, MB
3carnitine4410.6AMPD1, MB, CS, GAA
4imidazole4410.6RYR1, MB, CA3
5ryanodine44 28 5912.5RYR1, DES, DMPK
6succinate4410.5MB, CS, RYR1
7succinylcholine44 28 1112.5MB, RYR1
8glycogen44 2411.5HSPB8, CAV3, CS, GAA, DES
9acetylcholine44 49 28 11 2414.5MB, CS, DMPK, DES, RYR1
10nad+4410.5RYR1, DES, CS
11glutamine4410.5MB, CS, DCTN1, RYR1, PABPN1
12azide4410.4MB, RYR1
13lactate4410.4AMPD1, CA3, MB, CS, GAA, DES
14adenylate4410.4AMPD1, GNRHR, MB, CS, DES, PABPN1
15hydrogen44 2411.4CA3, GNRHR, MB, CS, RYR1
16arginine4410.4GNRHR, MB, CS, GAA, DES, RYR1
17glucose4410.4AMPD1, CAV3, CS, GAA, DMPK, DES
18creatinine4410.3PABPN1, CA3, CAV3, MB, CS, GAA
19oxygen44 2411.3AMPD1, CA3, MB, CS, DES, RYR1
20cyanide44 2411.3MB, RYR1
21citrate4410.3CS, MB, CA3
22testosterone44 59 11 2413.2MSTN, DES, MB, GNRHR, CA3
23doxorubicin44 49 1112.2RYR1, DES, MB, GNRHR
24calcium44 49 11 2412.7CAV3, GNRHR, CS, DMPK, DES, EMD

GO Terms for genes affiliated with Neuromuscular Disease

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16Gene Ontology
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Cellular components related to Neuromuscular Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1I bandGO:03167410.4TCAP, RYR1
2Z discGO:03001810.2TCAP, MYOT, SYNC, DES, CAV3
3sarcolemmaGO:04238310.1CAV3, DES, SYNC, MYOT
4neuromuscular junctionGO:03159410.0SYNC, DES, CAV3

Biological processes related to Neuromuscular Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle cell cellular homeostasisGO:04671610.4GAA, CAV3
2muscle contractionGO:00693610.3PABPN1, RYR1, EMD, MYOT, DES
3muscle organ developmentGO:00751710.3CAV3, GAA, EMD, MSTN
4regulation of heart contractionGO:00801610.2DES, DMPK, CAV3
5nuclear envelope organizationGO:00699810.1SUN2, DMPK

Molecular functions related to Neuromuscular Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.8SUN2, CAV3, DMPK, DES, DCTN1, MYOT

Products for genes affiliated with Neuromuscular Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuromuscular Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet