MCID: NRM005
MIFTS: 43

Neuromuscular Disease malady

Nephrological diseases, Neuronal diseases categories

Summaries for Neuromuscular Disease

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MedlinePlus:32 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 based summary: Neuromuscular Disease, also known as neuromuscular disorders, is related to central core disease and duchenne 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:9 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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Neuromuscular Disease, Aliases & Descriptions:

Name: Neuromuscular Disease 9
Neuromuscular Disorders 63 32
 
Neuromuscular Diseases 43 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:440
ICD9CM27 358.9, 358
MeSH33 D009468
ICD1025 N31.9

Related Diseases for Neuromuscular Disease

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1central core disease30.5MYOT, RYR1
2duchenne muscular dystrophy30.3SGCB, TCAP
3nemaline myopathy30.0RYR1, MYOT
4muscular dystrophy29.7SGCB, EMD, PABPN1, MYOT, FKRP, TCAP
5neuropathy29.2SGCB, EMD, PABPN1, MYOT, FKRP, RYR1
6myopathy28.6SGCB, EMD, PABPN1, MYOT, FKRP, TCAP
7respiratory failure10.5
8sleep disorder10.4
9left ventricular noncompaction10.3
10chronic pain10.3
11pulmonary function10.2
12myasthenia gravis10.2
13spinal muscular atrophy10.2
14kearns-sayre syndrome10.2
15sudden cardiac death multi-gene panels10.2RYR1, EMD
16congenital heart disease10.1RYR1, EMD
17lateral sclerosis10.1
18muscular atrophy10.1
19cholestasis10.1
20scoliosis10.1
21foot drop10.1
22hereditary ataxia10.1
23hyperinsulinism10.1
24adenoma10.1
25pancreatitis10.1
26pancreatic adenoma10.1
27piriformis syndrome10.1
28limb-girdle muscular dystrophy10.1TCAP, FKRP
29muscular dystrophy, limb-girdle, type 2h10.1TCAP, FKRP
30autosomal recessive limb-girdle muscular dystrophy type 2i10.1TCAP, FKRP
31cystic fibrosis10.1
32burns10.1
33spinal cord injury10.1
34malignant hyperthermia10.1
35laryngitis10.1
36ophthalmoplegia10.1
37myotonic dystrophy10.1
38pentosuria10.1
39dysphagia10.1
40myopathy, myofibrillar, 110.0
41neuronopathy, distal hereditary motor, type i10.0
42spinal muscular atrophy with progressive myoclonic epilepsy10.0
43myopathy, myofibrillar, 610.0
44minicore myopathy with external ophthalmoplegia10.0
45cowchock syndrome10.0
46barth syndrome10.0
47muscular dystrophy, congenital10.0
48bacteremia10.0
49paramyotonia congenita10.0
50myasthenia, congenital, with tubular aggregates 110.0

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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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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MalaCards organs/tissues related to Neuromuscular Disease:

31
Heart, Skeletal muscle, Testes, Bone, Lung, Spinal cord, Brain, Smooth muscle, Breast, Skin

Animal Models for Neuromuscular Disease or affiliated genes

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MGI Mouse Phenotypes related to Neuromuscular Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.8TCAP, RYR1, SGCB, EMD
2MP:00053698.2SGCB, EMD, FKRP, TCAP, RYR1
3MP:00053847.6RYR1, EMD, NAIP, FKRP, TCAP

Publications for Neuromuscular Disease

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Articles related to Neuromuscular Disease:

(show top 50)    (show all 562)
idTitleAuthorsYear
1
MICU1 mutation: a genetic cause for a type of neuromuscular disease in children. (25410274)
2015
2
Lifestyle Implications of Home Mechanical Insufflation-Exsufflation for Children With Neuromuscular Disease and Their Families. (25516994)
2014
3
Skeletal muscle microvasculature in the diagnosis of neuromuscular disease. (24042201)
2013
4
Differential diagnosis and treatment of muscle hypertonia as practiced in Zagreb's Centre/Institute for Neuromuscular Diseases. (24803845)
2013
5
Research priorities of patients with neuromuscular disease. (22747255)
2013
6
Electrodiagnosis in neuromuscular disease. (22938876)
2012
7
Neuromuscular disease: Muscular dystrophy--something new on God's green earth? (22450509)
2012
8
The Significance of Transcutaneous Continuous Overnight CO(2) Monitoring in Determining Initial Mechanical Ventilator Application for Patients with Neuromuscular Disease. (22506245)
2012
9
The role of patient advocacy organisations in neuromuscular disease R&D--The case of the Dutch neuromuscular disease association VSN. (20106662)
2010
10
Dystrobrevin isoform expression in patients with neuromuscular disease. (20569677)
2010
11
Novel methods of ambulatory physiologic monitoring in patients with neuromuscular disease. (19420155)
2009
12
Noninvasive ventilation as an alternative to endotracheal intubation during tracheotomy in advanced neuromuscular disease. (18028563)
2007
13
Tracheostomy for advanced neuromuscular disease. Con. (18029438)
2007
14
Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality. (17562504)
2007
15
Perioperative care of patients with neuromuscular disease and dysfunction. (17884705)
2007
16
Electrical impedance in bovine skeletal muscle as a model for the study of neuromuscular disease. (17135699)
2006
17
Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease. (16769874)
2006
18
Neuromuscular disease associated with glycogen storage in a Spanish-bred filly. (16617043)
2006
19
Estimate of daily calorie needs for a neuromuscular disease patient receiving noninvasive ventilation. (16034234)
2005
20
Use of the mechanical in-exsufflator in pediatric patients with neuromuscular disease and impaired cough. (15078753)
2004
21
A case of congenital neuromuscular disease with uniform type 1 fiber. (15004883)
2004
22
Advances in neuromuscular disease 2003: the year in review. (19078738)
2004
23
Exercise in neuromuscular disease. (19078719)
2003
24
Advancing the role of electrodiagnostic techniques in equine neuromuscular disease. (12357991)
2002
25
Response to resistive strengthening exercise training in humans with neuromuscular disease. (12409817)
2002
26
Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle. (12181300)
2002
27
Sleep and breathing in neuromuscular disease. (12108875)
2002
28
Pulmonary function testing in neuromuscular disease. (11787664)
2001
29
Triplet repeat expansion in neuromuscular disease. (10842259)
2000
30
Mitochondrial defects in cardiomyopathy and neuromuscular disease. (10650320)
2000
31
Evaluation and treatment of respiratory failure in neuromuscular disease. (9156393)
1997
32
Calf enlargement in neuromuscular diseases: a quantitative ultrasound study in 350 patients and review of the literature. (8981297)
1996
33
Optimization of force in the Wingate Test for children with a neuromuscular disease. (8882994)
1996
34
Single-incision combination biopsy (muscle and nerve) in the diagnosis of neuromuscular disease in children. (7814586)
1994
35
Comparison of a hand-held and fixed dynamometer in measuring strength of patients with neuromuscular disease. (8148862)
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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Search GEO for disease gene expression data for Neuromuscular Disease.

Pathways for genes affiliated with Neuromuscular Disease

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Pathways related to Neuromuscular Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.6EMD, SGCB

Compounds for genes affiliated with Neuromuscular Disease

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Compounds related to Neuromuscular Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1gsno439.9RYR1, SGCB
2imidazole439.8RYR1, SGCB
3dithiothreitol439.7RYR1, SGCB
4carbachol43 28 1211.6RYR1, SGCB
5thapsigargin43 5910.4RYR1, SGCB
6creatinine439.3PABPN1, FKRP, RYR1
7arginine439.3SGCB, PABPN1, RYR1
8calcium43 49 24 1211.5RYR1, NAIP, EMD, SGCB

GO Terms for genes affiliated with Neuromuscular Disease

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Cellular components related to Neuromuscular Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:00160109.4FKRP, SGCB
2Z discGO:00300189.3TCAP, MYOT
3I bandGO:00316749.3RYR1, TCAP
4sarcolemmaGO:00423838.9FKRP, MYOT, SGCB

Biological processes related to Neuromuscular Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.6EMD, SGCB
2muscle contractionGO:00069368.4RYR1, MYOT, PABPN1, EMD

Molecular functions related to Neuromuscular Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.0TCAP, MYOT
2protein bindingGO:00055157.4RYR1, TCAP, MYOT, PABPN1, NAIP, EMD

Products for genes affiliated with Neuromuscular Disease

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Sources for Neuromuscular Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet