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, Brain, Skin, Thyroid, Breast, T cells, Smooth muscle

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
Skeletal muscle microvasculature in the diagnosis of neuromuscular disease. (24042201)
2013
2
Neuromuscular disease: new insights and avenues for therapy. (23237893)
2013
3
Genetic background alters the severity and onset of neuromuscular disease caused by the loss of ubiquitin-specific protease 14 (usp14). (24358326)
2013
4
Perioperative respiratory management of pediatric patients with neuromuscular disease. (23763308)
2013
5
Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial. (21861909)
2011
6
Respiratory management of pediatric patients with neuromuscular disease. (21162485)
2010
7
Motor axonal sprouting and neuromuscular junction loss in an animal model of Charcot-Marie-Tooth disease. (20142762)
2010
8
Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008. (20074951)
2010
9
Assessment and management of fatigue in neuromuscular disease. (20190203)
2010
10
Hypoxic challenge flight assessments in patients with severe chest wall deformity or neuromuscular disease at risk for nocturnal hypoventilation. (19318347)
2009
11
Predictors of health-related quality of life in adult ambulatory independence neuromuscular disease patients. (21048650)
2009
12
Mechanisms of exercise limitation and pulmonary rehabilitation for patients with neuromuscular disease. (19858353)
2009
13
A rare cause of neuromuscular scoliosis: Alexander disease. (19084454)
2009
14
Critical burn patient with an unknown neuromuscular disease: conclusion. (18603211)
2008
15
Neuromuscular disease as the cause of late clubfoot relapses: report of 4 cases. (17907435)
2007
16
The expression of the chemorepellent Semaphorin 3A is selectively induced in terminal Schwann cells of a subset of neuromuscular synapses that display limited anatomical plasticity and enhanced vulnerability in motor neuron disease. (16677822)
2006
17
A case of congenital neuromuscular disease with uniform type 1 fibers. (16413720)
2006
18
Syncoilin upregulation in muscle of patients with neuromuscular disease. (16124004)
2005
19
A case of congenital neuromuscular disease with uniform type 1 fiber. (15004883)
2004
20
Pneumothorax: an important complication of non-invasive ventilation in neuromuscular disease. (15145334)
2004
21
Walking speed in children and young adults with neuromuscular disease: comparison between two assessment methods. (12724591)
2003
22
Systematic reviews to help guide clinical practice in neuromuscular disease. (12754329)
2003
23
Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle. (12181300)
2002
24
The clinical examination for neuromuscular disease. (11785724)
2002
25
Sleep abnormalities associated with neuromuscular disease: pathophysiology and evaluation. (16088613)
2002
26
Presynaptic calcium influx, neurotransmitter release, and neuromuscular disease. (12526991)
2002
27
Mitochondrial dysfunction and neuromuscular disease. (11180201)
2001
28
Mitochondrial defects in cardiomyopathy and neuromuscular disease. (10650320)
2000
29
Maximum insufflation capacity: vital capacity and cough flows in neuromuscular disease. (10821306)
2000
30
Creatine monohydrate increases strength in patients with neuromuscular disease. (10078740)
1999
31
The role of exercise in neuromuscular disease. (9894136)
1998
32
Relationship of reproductive hormones and neuromuscular disease of the gastrointestinal tract. (9549032)
1998
33
Sleep and neuromuscular disease: bilevel positive airway pressure by nasal mask as a treatment for sleep disordered breathing in patients with neuromuscular disease. (9703177)
1998
34
Optimization of force in the Wingate Test for children with a neuromuscular disease. (8882994)
1996
35
Role of exercise in the assessment and management of neuromuscular disease in children. (8778546)
1996
36
Neuromuscular disease: rehabilitation and electrodiagnosis. 2. Nerve disease. (7741625)
1995
37
Neuromuscular disease, respiratory failure and cor pulmonale. (1461855)
1992
38
Airway pressures during crying: an index of respiratory muscle strength in infants with neuromuscular disease. (1852514)
1991
39
Muscle imaging in neuromuscular disease using computerized real-time sonography. (3280997)
1988
40
Changes in the long bones due to fetal immobility caused by neuromuscular disease. A radiographic and histological study. (3403574)
1988
41
Family stress with chronic childhood illness: cystic fibrosis, neuromuscular disease, and renal disease. (3745452)
1986
42
Caveolae preservation in the characterization of human neuromuscular disease. (3513006)
1986
43
Activities of some antioxidative and hexose monophosphate shunt enzymes of skeletal muscle in neuromuscular diseases. (3532684)
1986
44
Sexuality and neuromuscular disease: a pilot study. (6885266)
1983
45
Electrodiagnostic studies in neuromuscular disease. (7435864)
1980
46
Cuirass ventilation in childhood neuromuscular disease. (423027)
1979
47
Scoliosis in neuromuscular disease. (523085)
1979
48
An overview of neuromuscular disease. (221891)
1979
49
Symposium on care of the patient with neuromuscular disease. (256024)
1979
50
Nature and significance of pentosuria in neuromuscular disease. (13280026)
1956

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