MCID: NRM005
MIFTS: 48

Neuromuscular Disease malady

Nephrological category

Summaries for Neuromuscular Disease

Sources:
8Disease Ontology, 34MedlinePlus, 64Wikipedia, 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 atrophy. 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. Related mouse phenotypes are cellular and cardiovascular system.

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

Wikipedia:64 Neuromuscular disease is a very broad term that encompasses many diseases and ailments that impair the... more...

Aliases & Classifications for Neuromuscular Disease

Sources:
8Disease Ontology, 64Wikipedia, 45Novoseek, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

neuromuscular disease 8
neuromuscular disorders 64 34
neuromuscular diseases 45 61


External Ids:

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

Related Diseases for Neuromuscular Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Neuromuscular Disease family:

congenital neuromuscular disease with uniform type 1 fiber

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

(show top 50)    (show all 155)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy30.5TCAP, CAV3, MB, DES, GAA, MSTN
2muscular atrophy30.2NAIP
3amyotrophic lateral sclerosis30.2NAIP, MB, DCTN1
4dysphagia30.1PABPN1
5malignant hyperthermia30.1AMPD1, RYR1, MB
6centronuclear myopathy29.9DES, RYR1
7myopathy congenital29.9GAA, DES, RYR1
8myofibrillar myopathy29.9SYNC, DES
9nemaline myopathy29.9MYOT, DES, RYR1
10emery-dreifuss muscular dystrophy29.9EMD, SUN2
11mitochondrial disorders29.9MSTN, RYR1
12sleep disorder10.4
13left ventricular noncompaction10.3
14n syndrome10.3
15chronic pain10.3
16congenital neuromuscular disease with uniform type 1 fiber10.3
17aldosterone-producing adenoma with complex neuromuscular disease10.3
18lateral sclerosis10.2
19spinal muscular atrophy10.2
20pulmonary function10.2
21kearns-sayre syndrome10.2
22hyperinsulinism10.1
23adenoma10.1
24hereditary ataxia10.1
25piriformis syndrome10.1
26pancreatic adenoma10.1
27adult syndrome10.1
28spinal cord disease10.1
29pentosuria10.1
30foot drop10.1
31spinal cord injury10.1
32hypertrophic cardiomyopathy10.0GAA
33myasthenia gravis10.0RYR1
34respiratory failure10.0GAA, RYR1
35limb-girdle muscular dystrophy, type 1a10.0MYOT, TCAP, CAV3
36familial hypertrophic cardiomyopathy10.0CAV3, TCAP
37limb-girdle muscular dystrophy, type 2b10.0CAV3, TCAP, MYOT
38calpainopathy10.0CAV3, TCAP, MYOT
39spheroid body myopathy10.0MYOT, DES
40rigid spine syndrome10.0GAA
41rippling muscle disease10.0CAV3
42myositis10.0RYR1, MSTN, MB
43oculopharyngeal muscular dystrophy10.0PABPN1, GAA
44polymyositis10.0GAA, MB
45limb-girdle muscular dystrophy type 1c10.0CAV3, MSTN
46limb-girdle muscular dystrophy10.0EMD, MYOT, TCAP, CAV3
47central core myopathy10.0RYR1, MYOT, DES, GAA
48carotid artery dissection10.0GAA
49distal muscular dystrophy10.0DES, GAA, CAV3, MYOT
50myotilinopathy10.0MYOT

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



Diseases related to neuromuscular disease

Clinical Features for Neuromuscular Disease

Drugs & Therapeutics for Neuromuscular Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Neuromuscular Disease

Animal Models for Neuromuscular Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Neuromuscular Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.9GAA, DCTN1, EMD, CAV3, HSPB8, MB
2MP:00053859.8DES, MSTN, HSPB8, CAV3, MB, GAA
3MP:00053699.7HSPB8, SUN2, MSTN, TCAP, RYR1, EMD
4MP:00053769.4TCAP, HSPB8, CAV3, GNRHR, MB, GAA

Publications for Neuromuscular Disease

Sources:
51PubMed
See all sources

Articles related to Neuromuscular Disease:

(show top 50)    (show all 579)
idTitleAuthorsYear
1
ALS and neuromuscular disease: in search of the Holy Grail. (24331786)
2014
2
Experienced stigmatization reduced quality of life of patients with a neuromuscular disease: a cross-sectional study. (23818411)
2013
3
Effect of home mechanical in-exsufflation on hospitalisation and life-style in neuromuscular disease: a pilot study. (23438093)
2013
4
Neuromuscular disease and the pulmonologist. (22498673)
2012
5
Neuromuscular disease: IVIg for neuromuscular disease-effective but expensive. (22614848)
2012
6
Using palliative care in progressive neuromuscular disease to maximize quality of life. (23137745)
2012
7
Neuromuscular disease. A novel imaging method to quantify low levels of dystrophin in Duchenne muscular dystrophy. (22310989)
2011
8
Targeting RNA to treat neuromuscular disease. (21804598)
2011
9
A literature review of studies using qualitative research to explore chronic neuromuscular disease. (21796035)
2011
10
The role of patient advocacy organisations in neuromuscular disease R&D--The case of the Dutch neuromuscular disease association VSN. (20106662)
2010
11
Discordant practice and limited histopathological assessment in gastrointestinal neuromuscular disease. (19923349)
2009
12
An exploratory study of physical activity and perceived barriers to exercise in ambulant people with neuromuscular disease compared with unaffected controls. (19506002)
2009
13
Sleep and neuromuscular disease. (19742417)
2009
14
hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction. (17947296)
2008
15
Noninvasive ventilation as an alternative to endotracheal intubation during tracheotomy in advanced neuromuscular disease. (18028563)
2007
16
Electrical impedance in bovine skeletal muscle as a model for the study of neuromuscular disease. (17135699)
2006
17
Neuromuscular disease causing acute respiratory failure. (16934165)
2006
18
Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice. (15888478)
2005
19
Effects of different ventilator settings on sleep and inspiratory effort in patients with neuromuscular disease. (15961699)
2005
20
Chronic pain in persons with neuromuscular disease. (15954054)
2005
21
Neurotrophic factors in neuromuscular disease. (16214056)
2005
22
Heat shock proteins and neuromuscular disease. (15962334)
2005
23
Mitochondrial respiratory chain dysfunction in various neuromuscular diseases. (15925774)
2005
24
Riluzole slows the progression of neuromuscular dysfunction in the wobbler mouse motor neuron disease. (15306257)
2004
25
Congenital diseases of feline muscle and neuromuscular junction. (15546767)
2004
26
Reduced neuromuscular quantal content with normal synaptic release time course and depression in canine motor neuron disease. (12466448)
2002
27
Nocturnal hypoventilation in chronic respiratory failure (CRF) due to neuromuscular disease. (10893104)
2000
28
Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family. (10838116)
2000
29
T-588, a novel neuroprotective agent, delays progression of neuromuscular dysfunction in wobbler mouse motoneuron disease. (10700601)
2000
30
Energy expenditure, physical activity, and body composition of ambulatory adults with hereditary neuromuscular disease. (9625089)
1998
31
Electromyography of the diaphragm in neuromuscular disease. (9626260)
1998
32
Mouse p150Glued (dynactin 1) cDNA sequence and evaluation as a candidate for the neuromuscular disease mutation mnd2. (9070275)
1997
33
Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers. (9044404)
1997
34
Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature. (8981297)
1996
35
Chest wall compliance in infants and children with neuromuscular disease. (8887605)
1996
36
Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. (7576420)
1995
37
Methods and prognosis of non-invasive ventilation in neuromuscular disease. (8518782)
1993
38
Neuromuscular disease. (8293152)
1993
39
Pentose phosphate pathway in neuromuscular diseases--evaluation of muscular glucose 6-phosphate dehydrogenase activity and RNA content]. (1703936)
1990
40
Mitochondrial DNA mutations and neuromuscular disease. (2652392)
1989
41
Respiratory muscle strength and gas exchange in neuromuscular diseases: comparison with chronic pulmonary emphysema and idiopathic pulmonary fibrosis. (2815076)
1989
42
Nocturnal hypoventilation in children with nonprogressive neuromuscular disease. (2913555)
1989
43
Functional ability and equipment use among patients with neuromuscular disease. (3592947)
1987
44
Treatment of respiratory failure during sleep in patients with neuromuscular disease. Positive-pressure ventilation through a nose mask. (3541713)
1987
45
Strength evaluation in neuromuscular disease. (3550413)
1987
46
The many faces of neuromuscular disease. (3941812)
1986
47
Generalized muscle stiffness and spontaneous electromyographic discharges in neuromuscular disease of parathyroid gland hypofunction. (4072762)
1985
48
Mechanical assistance in chronic respiratory insufficiency due to neuromuscular disease. (6391585)
1984
49
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. (6343859)
1983
50
A new hereditary neuromuscular disease in the dog breed "Gammel Dansk Honsehund". Genetic investigations. (7201985)
1982

Genetic Variations for Neuromuscular Disease

Expression for genes affiliated with Neuromuscular Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Neuromuscular Disease

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB, 50PharmGKB
See all sources

Compounds related to Neuromuscular Disease according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1propionate4510.6RYR1, CS, MB
2dantrolene45 29 1112.6RYR1, MB
3carnitine4510.6GAA, MB, AMPD1, CS
4imidazole4510.6CA3, RYR1, MB
5ryanodine45 29 6012.5DMPK, DES, RYR1
6succinate4510.5RYR1, CS, MB
7succinylcholine45 29 1112.5MB, RYR1
8glycogen45 2411.5CS, CAV3, DES, GAA, HSPB8
9nad+4510.5DES, RYR1, CS
10acetylcholine45 50 29 11 2414.5DMPK, DES, RYR1, MB, CS
11glutamine4510.5DCTN1, MB, PABPN1, RYR1, CS
12azide4510.4MB, RYR1
13lactate4510.4AMPD1, CA3, MB, GAA, CS, DES
14adenylate4510.4PABPN1, AMPD1, MB, DES, GNRHR, CS
15hydrogen45 2411.4CA3, MB, RYR1, CS, GNRHR
16arginine4510.4RYR1, MB, PABPN1, CS, GAA, DES
17glucose4510.4DMPK, MSTN, DES, GAA, CS, AMPD1
18creatinine4510.3RYR1, CA3, CAV3, MB, CS, GAA
19oxygen45 2411.3MSTN, DES, CS, MB, CA3, AMPD1
20cyanide45 2411.3RYR1, MB
21citrate4510.3CS, CA3, MB
22testosterone45 60 11 2413.2DES, MB, CA3, GNRHR, MSTN
23doxorubicin45 50 1112.2DES, RYR1, MB, GNRHR
24calcium45 50 11 2412.7RYR1, DES, NAIP, EMD, DMPK, CAV3

GO Terms for genes affiliated with Neuromuscular Disease

Sources:
16Gene Ontology
See all sources

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:04238310.1DES, SYNC, MYOT, CAV3
4neuromuscular junctionGO:03159410.0DES, SYNC, 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:00699810.1DMPK, SUN2

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neuromuscular Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet