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
Neuromuscular disease classification system. (23804164)
2013
2
Cochrane 20 years on: the Cochrane Neuromuscular Disease Group. (24011699)
2013
3
At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression. (23514457)
2013
4
Neuromuscular ultrasound in polyneuropathies and motor neuron disease. (23629869)
2013
5
A fatal neuromuscular disease in an adult patient after poliomyelitis in early childhood: consideration of the pathology of post-polio syndrome. (22672529)
2013
6
Noninvasive respiratory management and diaphragm and electrophrenic pacing in neuromuscular disease and spinal cord injury. (23349084)
2013
7
Guidelines for the management of respiratory complications in patients with neuromuscular disease. (23410743)
2013
8
The outcome of paediatric LCP hip plate use in children with and without neuromuscular disease. (24297691)
2013
9
In-hospital death while awaiting cardioverter/defibrillator in neuromuscular disease. (22206637)
2012
10
The role of the neuromuscular medicine and physiatry specialists in the multidisciplinary management of neuromuscular disease. (22938874)
2012
11
Management and long-term outcome of patients with chronic neuromuscular disease admitted to the intensive care unit for acute respiratory failure: a single-center retrospective study. (21740726)
2011
12
HDACs in skeletal muscle remodeling and neuromuscular disease. (21879447)
2011
13
Open gastrostomy for noninvasive ventilation users with neuromuscular disease. (20026942)
2010
14
Parental stress and quality of life in children with neuromuscular disease. (18639753)
2008
15
Pathology of paediatric gastrointestinal neuromuscular disease. (18185076)
2007
16
Avoiding respiratory failure in neuromuscular disease: why is it not done? (17314707)
2007
17
Statins, neuromuscular degenerative disease and an amyotrophic lateral sclerosis-like syndrome: an analysis of individual case safety reports from vigibase. (17536877)
2007
18
Mivacurium-induced neuromuscular block in adult patients suffering from Charcot-Marie-Tooth disease. (16987852)
2006
19
Pulmonary complications of neuromuscular disease. (16798576)
2006
20
Pulmonary rehabilitation in patients with neuromuscular disease. (16807978)
2006
21
Sonographically guided percutaneous muscle biopsy in diagnosis of neuromuscular disease: a useful alternative to open surgical biopsy. (16371549)
2006
22
Obesity, physical activity, and the metabolic syndrome in adult neuromuscular disease. (16214059)
2005
23
Use of the mechanical in-exsufflator in pediatric patients with neuromuscular disease and impaired cough. (15078753)
2004
24
Advances in neuromuscular disease 2003: the year in review. (19078738)
2004
25
HIV neuromuscular disease and mitochondrial function. (16120378)
2004
26
Cor pulmonale and sleep-disordered breathing in patients with restrictive lung disease and neuromuscular disorders. (16088550)
2003
27
Muscle fatigue in animal models of neuromuscular disease. (12409814)
2002
28
Respiratory muscle evaluation of the patient with neuromuscular disease. (16088612)
2002
29
Triplet repeat expansion in neuromuscular disease. (10842259)
2000
30
Mechanism of CO(2) retention in patients with neuromuscular disease. (10669689)
2000
31
Current concepts of respiratory complications of neuromuscular disease in children. (10836153)
2000
32
Direct measurement of high-energy phosphate compounds in patients with neuromuscular disease. (10454718)
1999
33
Disorders of Sleep and Breathing during Sleep in Neuromuscular Disease. (11898100)
1999
34
Assessment and management of communication impairment in neuromuscular disease. (7638458)
1995
35
Comparison of a hand-held and fixed dynamometer in measuring strength of patients with neuromuscular disease. (8148862)
1994
36
Central control of ventilation in neuromuscular disease. (7867278)
1994
37
Chronic denervation caused by botulinum neurotoxin as a model of a neuromuscular disease. (8154764)
1994
38
Occult respiratory failure as a cause of neuropsychiatric symptoms in chest wall deformity and neuromuscular disease. (1759011)
1991
39
New muscle power test in neuromuscular disease. Feasibility and reliability. (2403088)
1990
40
High-frequency ultrasonography of skeletal muscle in children with neuromuscular disease. (3054144)
1988
41
Vascular innervation in human skeletal muscle with and without neuromuscular disease. A quantitative ultrastructural study with references to the effects of age and different blood pressure. (3188843)
1988
42
The discovery of neuronopathy and neuropathy as a cause of progressive paralysis in childhood. The historical origins of modern differential diagnosis in neuromuscular disease. (6376716)
1984
43
Ultrastructural abnormalities of muscle and neuromuscular junction differentiation in a bovine congenital neuromuscular disease. (6659868)
1983
44
Hyperkinetic circulation during exercise in neuromuscular disease. (6684223)
1983
45
The recognition and management of respiratory insufficiency in neuromuscular disease. (7085841)
1982
46
Abnormal myomuscular junctions and AChE in a congenital neuromuscular disease. (7374674)
1980
47
Living with progressive childhood illness: parental management of neuromuscular disease. (7434142)
1980
48
Application of the freeze fracture technique to the study of human neuromuscular disease. (7374670)
1980
49
Exercise and neuromuscular disease. (18748498)
1979
50
Stress in families of children with neuromuscular disease. (511997)
1979

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