MCID: NRM005
MIFTS: 51

Neuromuscular Disease malady

Nephrological diseases, Neuronal diseases categories
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Summaries for Neuromuscular Disease

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8Disease Ontology, 34MedlinePlus, 65Wikipedia, 33MalaCards
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MedlinePlus:34 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 duchenne muscular dystrophy and muscular dystrophy. An important gene associated with Neuromuscular Disease is RYR1 (ryanodine receptor 1 (skeletal)), and among its related pathways is Hypertrophic cardiomyopathy (HCM). The compounds gsno and imidazole have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and testes, and related mouse phenotypes are cardiovascular system and muscle.

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

Wikipedia:65 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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8Disease Ontology, 65Wikipedia, 34MedlinePlus, 45Novoseek, 62UMLS, 58SNOMED-CT, 35MeSH, 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 65 34
neuromuscular diseases 45 62


External Ids:

Disease Ontology8 DOID:440
MeSH35 D009468
ICD9CM27 358.9, 358
ICD1025 N31.9

Related Diseases for Neuromuscular Disease

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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 145)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy30.3SGCB, TCAP
2muscular dystrophy30.3SGCB, EMD, PABPN1, MYOT, FKRP, TCAP
3nemaline myopathy29.8RYR1, MYOT
4neuropathy29.8SGCB, EMD, PABPN1, MYOT, FKRP, RYR1
5myopathy29.5SGCB, EMD, PABPN1, MYOT, FKRP, TCAP
6respiratory failure10.5
7congenital neuromuscular disease with uniform type 1 fiber10.5
8sleep disorder10.4
9left ventricular noncompaction10.3
10chronic pain10.3
11kearns-sayre syndrome10.2
12lateral sclerosis10.2
13myasthenia gravis10.2
14spinal muscular atrophy10.2
15pulmonary function10.2
16muscular atrophy10.1
17amyotrophic lateral sclerosis10.1
18cholestasis10.1
19hyperinsulinism10.1
20adenoma10.1
21pancreatitis10.1
22hereditary ataxia10.1
23myopathy congenital10.1
24pancreatic adenoma10.1
25piriformis syndrome10.1
26sudden cardiac death multi-gene panels10.0RYR1, EMD
27congenital heart disease10.0RYR1, EMD
28burns10.0
29malignant hyperthermia10.0
30laryngitis10.0
31myotonic dystrophy10.0
32pentosuria10.0
33dysphagia10.0
34foot drop10.0
35spinal cord injury10.0
36central core myopathy10.0MYOT, RYR1
37limb-girdle muscular dystrophy10.0TCAP, FKRP
38limb-girdle muscular dystrophy type 2h10.0TCAP, FKRP
39muscular dystrophy-dystroglycanopathy , type c, 510.0TCAP, FKRP
40limb-girdle muscular dystrophy type 2e10.0SGCB, FKRP, TCAP
41limb-girdle muscular dystrophy type 2f10.0SGCB, FKRP, TCAP
42motor neuron disease10.0RYR1, NAIP
43limb-girdle muscular dystrophy, type 2g10.0MYOT, FKRP, TCAP
44limb-girdle muscular dystrophy, type 1a10.0TCAP, FKRP, MYOT
45dilated cardiomyopathy10.0EMD, FKRP, TCAP, RYR1
46episodic ataxia9.9
47kennedy's disease9.9
48thomsen disease9.9
49retinitis pigmentosa9.9
50steatorrhea9.9

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



Diseases related to neuromuscular disease

Symptoms for Neuromuscular Disease

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Drugs & Therapeutics for Neuromuscular Disease

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Neuromuscular Disease

Search NIH Clinical Center for Neuromuscular Disease

Genetic Tests for Neuromuscular Disease

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Anatomical Context for Neuromuscular Disease

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33MalaCards
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MalaCards organs/tissues related to Neuromuscular Disease:

33
Heart, Skeletal muscle, Testes, Bone, Spinal cord, Lung, Smooth muscle, Breast, Skin, Brain, T cells

Animal Models for Neuromuscular Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Neuromuscular Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.8RYR1, TCAP, EMD, SGCB
2MP:00053698.2RYR1, TCAP, FKRP, EMD, SGCB
3MP:00053847.6EMD, NAIP, FKRP, TCAP, RYR1

Publications for Neuromuscular Disease

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52PubMed
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Articles related to Neuromuscular Disease:

(show top 50)    (show all 530)
idTitleAuthorsYear
1
Skeletal muscle microvasculature in the diagnosis of neuromuscular disease. (24042201)
2013
2
Research priorities of patients with neuromuscular disease. (22747255)
2013
3
Electrodiagnosis in neuromuscular disease. (22938876)
2012
4
Neuromuscular disease: Muscular dystrophy--something new on God's green earth? (22450509)
2012
5
The Significance of Transcutaneous Continuous Overnight CO(2) Monitoring in Determining Initial Mechanical Ventilator Application for Patients with Neuromuscular Disease. (22506245)
2012
6
The role of patient advocacy organisations in neuromuscular disease R&D--The case of the Dutch neuromuscular disease association VSN. (20106662)
2010
7
Dystrobrevin isoform expression in patients with neuromuscular disease. (20569677)
2010
8
Novel methods of ambulatory physiologic monitoring in patients with neuromuscular disease. (19420155)
2009
9
Discordant practice and limited histopathological assessment in gastrointestinal neuromuscular disease. (19923349)
2009
10
Noninvasive ventilation as an alternative to endotracheal intubation during tracheotomy in advanced neuromuscular disease. (18028563)
2007
11
Tracheostomy for advanced neuromuscular disease. Con. (18029438)
2007
12
Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality. (17562504)
2007
13
Perioperative care of patients with neuromuscular disease and dysfunction. (17884705)
2007
14
Electrical impedance in bovine skeletal muscle as a model for the study of neuromuscular disease. (17135699)
2006
15
Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease. (16769874)
2006
16
Neuromuscular disease associated with glycogen storage in a Spanish-bred filly. (16617043)
2006
17
Estimate of daily calorie needs for a neuromuscular disease patient receiving noninvasive ventilation. (16034234)
2005
18
Use of the mechanical in-exsufflator in pediatric patients with neuromuscular disease and impaired cough. (15078753)
2004
19
A case of congenital neuromuscular disease with uniform type 1 fiber. (15004883)
2004
20
Advances in neuromuscular disease 2003: the year in review. (19078738)
2004
21
Exercise in neuromuscular disease. (19078719)
2003
22
Advancing the role of electrodiagnostic techniques in equine neuromuscular disease. (12357991)
2002
23
Response to resistive strengthening exercise training in humans with neuromuscular disease. (12409817)
2002
24
Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle. (12181300)
2002
25
Sleep and breathing in neuromuscular disease. (12108875)
2002
26
Pulmonary function testing in neuromuscular disease. (11787664)
2001
27
Triplet repeat expansion in neuromuscular disease. (10842259)
2000
28
Mitochondrial defects in cardiomyopathy and neuromuscular disease. (10650320)
2000
29
Nocturnal hypoventilation in chronic respiratory failure (CRF) due to neuromuscular disease. (10893104)
2000
30
Evaluation and treatment of respiratory failure in neuromuscular disease. (9156393)
1997
31
Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature. (8981297)
1996
32
Optimization of force in the Wingate Test for children with a neuromuscular disease. (8882994)
1996
33
Single-incision combination biopsy (muscle and nerve) in the diagnosis of neuromuscular disease in children. (7814586)
1994
34
Comparison of a hand-held and fixed dynamometer in measuring strength of patients with neuromuscular disease. (8148862)
1994
35
Expression of the 43 kDa dystrophin-associated glycoprotein in human neuromuscular disease. (8012191)
1994
36
The effect of ventilatory muscle training on respiratory function and capacity in ambulatory and bed-ridden patients with neuromuscular disease. (8257974)
1993
37
Ultrasound guided needle biopsy of skeletal muscle in neuromuscular disease. (2206699)
1990
38
The genes for two neuromuscular diseases of the mouse, 'arrested development of righting response', adr, and 'myotonia', mto, are allelic. (3243424)
1988
39
Assessment of quadriceps femoris muscle atrophy and hypertrophy in neuromuscular disease in children. (3150399)
1988
40
Long-term mechanical ventilation in infants with neuromuscular disease. (3125240)
1988
41
Functional ability and equipment use among patients with neuromuscular disease. (3592947)
1987
42
Sequential isokinetic and manual muscle testing in patients with neuromuscular disease. A pilot study. (3941825)
1986
43
Home negative pressure ventilation: report of 20 years of experience in patients with neuromuscular disease. (3885906)
1985
44
Human muscle carbonic anhydrase III (CA-III). Purification, immunohistochemical localization in the human skeletal muscle and its clinical application to the neuromuscular disease. (6430772)
1984
45
Effect of training on the exercise responses of neuromuscular disease patients. (6513764)
1984
46
Ultrastructural abnormalities of muscle and neuromuscular junction differentiation in a bovine congenital neuromuscular disease. (6659868)
1983
47
Orthopaedic management of childhood neuromuscular disease. Part II: peripheral neuropathies, Friedreich's ataxia, and arthrogryposis multiplex congenita. (6282888)
1982
48
Quantitative electromyography in babies and young children with no evidence of neuromuscular disease. (7175547)
1982
49
Exercise and neuromuscular disease. (18748498)
1979
50
Cuirass ventilation in childhood neuromuscular disease. (423027)
1979

Variations for Neuromuscular Disease

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Expression for genes affiliated with Neuromuscular Disease

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2BioGPS, 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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50PathCards, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Neuromuscular Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.6EMD, SGCB

Compounds for genes affiliated with Neuromuscular Disease

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45Novoseek, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 24HMDB
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Compounds related to Neuromuscular Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gsno459.9RYR1, SGCB
2imidazole459.8RYR1, SGCB
3dithiothreitol459.7RYR1, SGCB
4carbachol45 29 1111.6RYR1, SGCB
5thapsigargin45 6110.4RYR1, SGCB
6creatinine459.3PABPN1, FKRP, RYR1
7arginine459.3SGCB, PABPN1, RYR1
8calcium45 51 24 1111.5RYR1, NAIP, EMD, SGCB

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
1dystrophin-associated glycoprotein complexGO:0160109.4FKRP, SGCB
2Z discGO:0300189.3TCAP, MYOT
3I bandGO:0316749.3RYR1, TCAP
4sarcolemmaGO:0423838.9FKRP, MYOT, SGCB

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:0075179.6EMD, SGCB
2muscle contractionGO:0069368.4RYR1, MYOT, PABPN1, EMD

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.0TCAP, MYOT
2protein bindingGO:0055157.4RYR1, TCAP, MYOT, PABPN1, NAIP, EMD

Products for genes affiliated with Neuromuscular Disease

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Sources for Neuromuscular Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet