MCID: NRM005
MIFTS: 62

Neuromuscular Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Neuromuscular Disease

MalaCards integrated aliases for Neuromuscular Disease:

Name: Neuromuscular Disease 12 59 15 17
Neuromuscular Diseases 55 6 44 15 72
Neuromuscular Disorders 43
Neuromuscular Disorder 40

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:440
ICD9CM 35 358 358.9
MeSH 44 D009468
SNOMED-CT 68 1664005
ICD10 33 G70.9
MESH via Orphanet 45 D009468
UMLS via Orphanet 73 C0027868
Orphanet 59 ORPHA68381
UMLS 72 C0027868

Summaries for Neuromuscular Disease

MedlinePlus : 43 Neuromuscular disorders affect your neuromuscular system. They can cause problems with The nerves that control your muscles Your muscles Communication between your nerves and muscles These disorders can cause your muscles to become weak and waste away. You may also have symptoms such as spasms, twitching, and pain. Examples of neuromuscular disorders include Amyotrophic lateral sclerosis Muscular dystrophy Myasthenia gravis Spinal muscular atrophy There can be different causes for these diseases. Many of them are genetic.This means they are inherited (run in families) or are caused by a new mutation in your genes. Some neuromuscular disorders are autoimmune diseases. Sometimes the cause is not known. Many neuromuscular diseases have no cure. But treatments may improve symptoms, increase mobility, and lengthen life.

MalaCards based summary : Neuromuscular Disease, also known as neuromuscular diseases, is related to isolated hyperckemia and spinal muscular atrophy, type ii, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Neuromuscular Disease is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Neurofilaments. The drugs Riluzole and Magnesium Sulfate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and lung, and related phenotypes are no effect and behavior/neurological

Disease Ontology : 12 A neuropathy that affect the nerves that control the voluntary muscles.

Wikipedia : 75 Neuromuscular disease is a broad term that encompasses many diseases and ailments that impair the... more...

Related Diseases for Neuromuscular Disease

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

(show top 50) (show all 711)
# Related Disease Score Top Affiliating Genes
1 isolated hyperckemia 32.9 LAMA2 DMD
2 spinal muscular atrophy, type ii 32.7 SMN2 SMN1
3 roussy-levy hereditary areflexic dystasia 32.5 PMP22 MPZ
4 spinal muscular atrophy, type iv 32.4 SMN2 SMN1
5 myofibrillar myopathy 32.2 SYNC HSPB8 DMD DES
6 brody myopathy 32.0 RYR1 DMD
7 muscular atrophy 31.8 TRPV4 SMN2 SMN1
8 myopathy 31.7 RYR1 MTM1 GNE DES
9 charcot-marie-tooth disease 31.7 TRPV4 PMP22 NEFL MTM1 MPZ HSPB8
10 muscular dystrophy, becker type 31.3 UTRN LAMA2 DMD
11 myopathy, congenital 31.3 RYR1 MTM1 DMD
12 amyotrophic lateral sclerosis 1 31.2 SMN2 SMN1 NEFL HSPB8 DCTN1
13 dystrophinopathies 31.2 UTRN DMD
14 myotonia 31.0 SCN4A DMPK
15 charcot-marie-tooth hereditary neuropathy 31.0 PMP22 MPZ
16 foot drop 30.9 PMP22 MPZ
17 centronuclear myopathy 30.9 RYR1 MTM1 DMD
18 tooth disease 30.8 TRPV4 PMP22 NEFL MPZ HSPB8
19 muscular dystrophy 30.8 UTRN RYR1 PABPN1 LAMA2 GNE DMPK
20 spinal muscular atrophy, type iii 30.7 SMN2 SMN1
21 miyoshi muscular dystrophy 30.7 LAMA2 GNE DMD
22 ptosis 30.6 RYR1 PABPN1 MUSK MTM1
23 congenital myasthenic syndrome 30.5 UTRN SCN4A RYR1 MUSK
24 oculopharyngodistal myopathy 30.5 PABPN1 GNE
25 proximal spinal muscular atrophy 30.3 SMN2 SMN1 DES
26 central core myopathy 30.3 RYR1 MTM1
27 rigid spine muscular dystrophy 1 30.3 RYR1 LAMA2 DMD
28 spinal muscular atrophy, distal, autosomal recessive, 1 30.3 SMN2 SMN1
29 progressive muscular atrophy 30.3 TRPV4 SMN2 SMN1
30 myotonic dystrophy 2 30.0 SCN4A DMPK
31 charcot-marie-tooth disease, axonal, type 2e 30.0 PMP22 NEFL MTM1 MPZ
32 peripheral nervous system disease 29.7 SMN2 SMN1 PMP22 NEFL MUSK MTM1
33 muscular disease 28.6 UTRN SMN2 SMN1 SCN4A RYR1 PABPN1
34 genetic neuromuscular disease 12.3
35 rare neuromuscular disorder with ocular motility/alignment anomaly 12.2
36 rare genetic neuromuscular disorder with ocular motility/alignment anomaly 12.2
37 sucking/swallowing disorder associated with a neuromuscular disease 12.2
38 qualitative or quantitative protein defects in neuromuscular diseases 12.2
39 neuromuscular disease with dilated cardiomyopathy 12.2
40 central core disease of muscle 11.8
41 emery-dreifuss muscular dystrophy 1, x-linked 11.8
42 myasthenia gravis 11.6
43 lateral sclerosis 11.5
44 spinal muscular atrophy 11.5
45 myopathy, myofibrillar, 1 11.4
46 oculopharyngeal muscular dystrophy 11.3
47 intestinal pseudo-obstruction 11.3
48 barth syndrome 11.3
49 amyotrophy, monomelic 11.3
50 multiminicore disease 11.3

Comorbidity relations with Neuromuscular Disease via Phenotypic Disease Network (PDN):


Acute Cystitis Heart Disease
Swallowing Disorders

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



Diseases related to Neuromuscular Disease

Symptoms & Phenotypes for Neuromuscular Disease

UMLS symptoms related to Neuromuscular Disease:


seizures, tremor, myoclonus, back pain, pain, headache, torticollis, syncope, athetosis, chronic pain, sciatica, vertigo/dizziness, sleeplessness, muscle cramp, muscle spasticity

GenomeRNAi Phenotypes related to Neuromuscular Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 DCTN1 DES DMD DMPK GNE HSPB8

MGI Mouse Phenotypes related to Neuromuscular Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 DCTN1 DES DMD GNE LAMA2 MPZ
2 homeostasis/metabolism MP:0005376 10.32 DCTN1 DES DMD DMPK GNE HSPB8
3 cellular MP:0005384 10.21 DCTN1 DES DMD HSPB8 LAMA2 MPZ
4 cardiovascular system MP:0005385 10.2 DES DMD DMPK GNE HSPB8 MTM1
5 mortality/aging MP:0010768 10.13 DCTN1 DES DMD GNE HSPB8 LAMA2
6 muscle MP:0005369 10.09 DCTN1 DES DMD DMPK GNE HSPB8
7 hearing/vestibular/ear MP:0005377 9.8 DMD LAMA2 PMP22 SMN2 TRPV4
8 limbs/digits/tail MP:0005371 9.8 DCTN1 DMD PMP22 RYR1 SMN2 UTRN
9 nervous system MP:0003631 9.65 DCTN1 DMD LAMA2 MPZ MUSK NEFL
10 respiratory system MP:0005388 9.28 DMD HSPB8 MTM1 MUSK RYR1 SCN4A

Drugs & Therapeutics for Neuromuscular Disease

Drugs for Neuromuscular Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 252)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
5
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
6
Azathioprine Approved Phase 4 446-86-6 2265
7 Ancrod Approved, Investigational Phase 4 9046-56-4
8
Acetaminophen Approved Phase 4 103-90-2 1983
9
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
10
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
11 Neuromuscular Agents Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Antirheumatic Agents Phase 4
14 Antimetabolites Phase 4
15 Anti-Infective Agents Phase 4
16 Immunologic Factors Phase 4
17 Immunosuppressive Agents Phase 4
18 Antimetabolites, Antineoplastic Phase 4
19 Anticonvulsants Phase 4
20 Anti-Arrhythmia Agents Phase 4
21 Anti-Bacterial Agents Phase 4
22 Neuromuscular Nondepolarizing Agents Phase 4
23 Neuromuscular Blocking Agents Phase 4
24 calcium channel blockers Phase 4
25 Calcium, Dietary Phase 4
26 Antibiotics, Antitubercular Phase 4
27 Chloroquine diphosphate Phase 4 50-63-5
28 Antiparasitic Agents Phase 4
29 Anti-Inflammatory Agents, Non-Steroidal Phase 4
30 Anthelmintics Phase 4
31 Antimalarials Phase 4
32 Antiprotozoal Agents Phase 4
33 Analgesics, Non-Narcotic Phase 4
34 Antipyretics Phase 4
35 Anesthetics, Local Phase 4
36
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
37
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
38
Clevidipine Approved, Investigational Phase 2, Phase 3 167221-71-8
39
Edaravone Approved, Investigational Phase 2, Phase 3 89-25-8 70335
40
Deflazacort Approved, Investigational Phase 3 14484-47-0
41
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
42
Cyclobenzaprine Approved Phase 3 303-53-7 2895
43 GABA Agents Phase 3
44 Antimanic Agents Phase 3
45 Potassium Channel Blockers Phase 2, Phase 3
46 Superoxide Dismutase Phase 2, Phase 3
47 gamma-Globulins Phase 3
48 Immunoglobulins, Intravenous Phase 3
49 Immunoglobulin G Phase 3
50 Rho(D) Immune Globulin Phase 3

Interventional clinical trials:

(show top 50) (show all 426)
# Name Status NCT ID Phase Drugs
1 A Pilot Study: Comparing Physiological Parameters and Outcome Variables Using Pressure Support Ventilation Versus Pressure Controlled Ventilation in Patients With Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
2 Non-Invasive Positive Pressure Mask Ventilation vs Extrathoracic Biphasic Cuirass Ventilation in Patients With Acute Respiratory Failure: A Randomized Prospective Study. Unknown status NCT00331656 Phase 4
3 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
4 Role of Non-invasive Ventilation in Amyotrophic Lateral Sclerosis: Volume Versus Pressure Mode Unknown status NCT00560287 Phase 4
5 A Randomized Trial to Compare the Effectiveness of Hospital or Ambulatory Approach for Adaptation to Non-Invasive Mechanical Ventilation in Patients With Chronic Respiratory Failure Secondary to Neuromuscular Diseases or Thoracic Cage Alterations Completed NCT00698958 Phase 4
6 The Effect of Dexamethasone on Sugammadex Reversal in Pediatric Patients Undergoing Adenotonsillectomy: a Randomized, Placebo-controlled Study Completed NCT02137395 Phase 4 Dexamethasone;Placebo
7 Effects of Magnesium Sulphate on Sugammadex Reversal of Rocuronium Induced Blockade in Gynaecology Patients Completed NCT01972659 Phase 4 placebo;Magnesium Sulphate;sugammadex
8 Minimal Optimal Dose of Sugammadex in Elective Surgery Completed NCT03515694 Phase 4 Sugammadex Injection [Bridion]
9 Possible Role of Chloroquine in Conjunction to Prednisone to Induce a Complete Remission in the Treatment of Autoimmune Hepatitis: a Randomized Trial Completed NCT02463331 Phase 4 Chloroquine diphosphate;prednisone;azathioprine
10 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
11 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
12 Comparison of a Breath Enhanced High Density Jet Nebulizer With a Standard Jet Nebulizer for the Treatment of Children With a Moderate to Severe Asthma Exacerbation in the Emergency Department Completed NCT01951378 Phase 4 Albuterol
13 Effect of Myofascial Release on Electrophysiological and Clinical Measures of Pregnant Women With Carpal Tunnel Syndrome Completed NCT03802448 Phase 4
14 A Randomized, Parallel-group, Safety-assessor-blinded Phase IV Study to Estimate the Influence of Mild Hypothermia on Reversal of Rocuronium-induced Neuromuscular Block With Sugammadex Completed NCT01965067 Phase 4 sugammadex
15 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
16 Efficiency of Thoracolumbar Interfascial Plane Block in Lumbar Disk Surgery Recruiting NCT03180099 Phase 4 Bupivacaine;Bupivacaine
17 Anterior And Multi-Compartment Vaginal Prolapse Repair Augmented With Decellularized Human Dermal Allograft: A Prospactive, Randomized Controlled, Post Market Study Not yet recruiting NCT03939715 Phase 4
18 Effect of Servo-Ventilation on CO2 Regulation and Heart Rate Variability Not yet recruiting NCT03890939 Phase 4
19 Evaluation of the Effects of Long Term Non-Invasive Ventilation in Patient With Cystic Fibrosis and Chronic Hypercapnic Respiratory Failure. Terminated NCT00208078 Phase 4
20 A Pilot Trial To Assess The Feasibility And Efficacy Of Subcutaneous Immunoglobulin In Patients With Myasthenia Gravis Exacerbation Unknown status NCT02774239 Phase 3 Human normal immunoglobulin G (IgG)
21 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
22 The Evaluation of the Astral VAPS AutoEPAP Treatment Algorithm Completed NCT02683772 Phase 3
23 Columbia SMA Project: 4-AP as a Potential SMA Therapeutic Agent and Biological Mechanisms of Action Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
24 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
25 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TNX-102 SL Tablets Taken Daily at Bedtime in Patients With Fibromyalgia Completed NCT02436096 Phase 3 TNX-102 SL Tablet, 2.8mg;Placebo SL Tablet
26 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
27 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
28 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
29 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
30 Speech Effects of a Speaking Valve Versus External PEEP in Tracheostomized Ventilator-Dependent Neuromuscular Patients Completed NCT00978783 Phase 2, Phase 3
31 Phase II/III Randomized, Placebo-Controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis (ALS) Completed NCT00706147 Phase 2, Phase 3 Arimoclomol;Placebo
32 Effects of OroPharyngeal Exercises on Patients With Moderate Obstructive Sleep Apnea: A Randomized, Controlled Study Completed NCT00660777 Phase 3
33 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
34 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
35 A Phase III Study to Evaluate the Efficacy, Safety, and Tolerability of Immune Globulin Infusion 10% (Human) With Recombinant Human Hyaluronidase (HYQVIA/HyQvia) and Immune Globulin Infusion (Human), 10% (GAMMAGARD LIQUID/KIOVIG) for the Treatment of Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) Recruiting NCT02549170 Phase 3
36 Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS) in a Representative Iranian Population Active, not recruiting NCT03272802 Phase 2, Phase 3 Edaravone;Riluzole
37 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Active, not recruiting NCT01225614 Phase 3
38 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
39 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent
40 A 48-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 250 Unit of Dysport Versus 50 Unit of Neuronox Injection For Cervical Dystonia in Thai Patients Not yet recruiting NCT03805152 Phase 3 Neuronox(R);Dysport (R)
41 Evaluation of a Mechanical Insufflation-exsufflation Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders: a Prospective, Randomized, Controlled, Multicenter Study Terminated NCT00839033 Phase 3
42 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study To Evaluate The EFFIcacy and Safety of TNX-102 SL Tablets Taken Daily At Bedtime In Patients With FibRoMyalgia Terminated NCT02829814 Phase 3 TNX-102 SL Tablet, 2.8 mg;Placebo SL Tablet
43 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea
44 Phase II Study of Nonsense Readthrough Compound NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy Patients (NORTH POLE DMD Study) Unknown status NCT01918384 Phase 2 NPC-14;Placebo
45 Safety and Efficacy Study of Anti-cholinesterase Therapy on the Motor Functions in Patients With Spinal Muscular Atrophy Type 3. Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
46 Autologous Bone Marrow Transplantation for Muscle Improvement in Traumatic Brachial Plexus Injuries Unknown status NCT00755586 Phase 1, Phase 2
47 Treatment of Temporo-Myofascial Disorder of Muscular Origin Using Botulinum Toxin: A Prospective Study Unknown status NCT02810015 Phase 2 Botulinum Toxin Type A
48 A Clinical Trial to Optimise Patient-ventilator Interaction in Patients With Chronic Respiratory Failure Completed NCT01371149 Phase 2
49 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
50 Phase II Trial of Methotrexate in Myasthenia Gravis Completed NCT00814138 Phase 2 Methotrexate

Search NIH Clinical Center for Neuromuscular Disease

Cochrane evidence based reviews: neuromuscular diseases

Genetic Tests for Neuromuscular Disease

Anatomical Context for Neuromuscular Disease

MalaCards organs/tissues related to Neuromuscular Disease:

41
Skeletal Muscle, Testes, Lung, Bone, Brain, Heart, Spinal Cord

Publications for Neuromuscular Disease

Articles related to Neuromuscular Disease:

(show top 50) (show all 5682)
# Title Authors PMID Year
1
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. 38 17
31220956 2019
2
Molecular biomarkers for neuromuscular disorders - challenges and future perspectives. 38 17
31180130 2019
3
Assistive technology based on client-centered for occupational performance in neuromuscular conditions. 17
31232929 2019
4
Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway. 9 38
20346670 2010
5
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. 9 38
20234094 2010
6
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. 9 38
19291799 2009
7
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. 9 38
19416897 2009
8
Effect of newly proposed CK reference limits on neuromuscular diagnosis. 9 38
19260057 2009
9
Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. 9 38
18923150 2009
10
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. 9 38
18689355 2008
11
Dysferlinopathies. 9 38
18974555 2008
12
Syncoilin is required for generating maximum isometric stress in skeletal muscle but dispensable for muscle cytoarchitecture. 9 38
18367591 2008
13
Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy. 9 38
18078930 2008
14
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. 9 38
17538032 2008
15
Endoplasmic reticulum stress induces myostatin precursor protein and NF-kappaB in cultured human muscle fibers: relevance to inclusion body myositis. 9 38
17261282 2007
16
High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm. 9 38
17122938 2006
17
[The C-terminal fragment of thymopoietin forms F-actin bundles: electron microscopic data]. 9 38
17131816 2006
18
Presymptomatic neuromuscular disorders disclosed following statin treatment. 9 38
16864763 2006
19
Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. 9 38
16439605 2006
20
Syncoilin upregulation in muscle of patients with neuromuscular disease. 9 38
16124004 2005
21
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. 9 38
16288872 2005
22
Mitochondrial respiratory chain dysfunction in various neuromuscular diseases. 9 38
15925774 2005
23
Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. 9 38
15862279 2005
24
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. 9 38
15832310 2005
25
The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. 9 38
15835271 2005
26
Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice. 9 38
15757977 2005
27
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 9 38
15580564 2005
28
The prion protein in human neuromuscular diseases. 9 38
15476279 2004
29
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 9 38
15236405 2004
30
Determination of SMN1 and SMN2 copy number using TaqMan technology. 9 38
12815596 2003
31
Abnormal contractile activity and calcium cycling in cardiac myocytes isolated from DMPK knockout mice. 9 38
12595579 2003
32
Nuclear envelope proteins and neuromuscular diseases. 9 38
12661041 2003
33
Direct deletion analysis in two Duchenne muscular dystrophy symptomatic females using polymorphic dinucleotide (CA)n loci within the dystrophin gene. 9 38
12689516 2003
34
Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1. 9 38
12244096 2002
35
SMN-mediated assembly of RNPs: a complex story. 9 38
12441251 2002
36
Sp1 and the ets-related transcription factor complex GABP alpha/beta functionally cooperate to activate the utrophin promoter. 9 38
11997063 2002
37
Diagnosis of dystrophinopathy by skin biopsy. 9 38
11870717 2002
38
Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. 9 38
11592825 2001
39
Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. 9 38
11003790 2000
40
CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI. 9 38
10956560 2000
41
Immunohistochemical staining of dystrophin on formalin-fixed paraffin-embedded sections in Duchenne/Becker muscular dystrophy and manifesting carriers of Duchenne muscular dystrophy. 9 38
10899449 2000
42
Expression of thrombomodulin, caveolin-3, and desmin on muscle fibers in neuromuscular diseases. 9 38
10567086 1999
43
The up-regulation of utrophin is not limited to muscular dystrophies. 9 38
10707847 1999
44
CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia. 9 38
10480373 1999
45
Localization of survival motor neuron protein in human apoptotic-like and regenerating muscle fibers, and neuromuscular junctions. 9 38
10501549 1999
46
Increased expression of glial cell line-derived neurotrophic factor mRNA in muscle biopsies from patients with amyotrophic lateral sclerosis. 9 38
10202982 1999
47
Up-regulation of glial cell line-derived neurotrophic factor (GDNF) expression in regenerating muscle fibers in neuromuscular diseases. 9 38
9870346 1998
48
GDNF expression is increased in denervated human skeletal muscle. 9 38
9697925 1998
49
The role of the SMN gene in proximal spinal muscular atrophy. 9 38
9735373 1998
50
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. 9 38
9323130 1997

Variations for Neuromuscular Disease

ClinVar genetic disease variations for Neuromuscular Disease:

6 (show all 20)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 12:110230201-110230201 12:109792396-109792396
2 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 12:110230500-110230500 12:109792695-109792695
3 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 12:110236628-110236628 12:109798823-109798823
4 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 12:110238471-110238471 12:109800666-109800666
5 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 12:110222190-110222190 12:109784385-109784385
6 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 12:110231365-110231365 12:109793560-109793560
7 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 12:110240814-110240814 12:109803009-109803009
8 TRPV4 NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp) single nucleotide variant Pathogenic rs397514474 12:110252370-110252370 12:109814565-109814565
9 TRPV4 NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile) single nucleotide variant Pathogenic rs387906906 12:110224632-110224632 12:109786827-109786827
10 TRPV4 NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu) single nucleotide variant Pathogenic rs387906907 12:110238450-110238450 12:109800645-109800645
11 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 12:110236625-110236625 12:109798820-109798820
12 TRPV4 NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg) single nucleotide variant Pathogenic rs121912637 12:110222183-110222183 12:109784378-109784378
13 TRPV4 NM_021625.4(TRPV4): c.1772A> G (p.Tyr591Cys) single nucleotide variant Pathogenic rs515726157 12:110230509-110230509 12:109792704-109792704
14 TRPV4 NM_021625.4(TRPV4): c.2396_2412del (p.Pro799fs) deletion Pathogenic rs515726166 12:110222167-110222183 12:109784362-109784378
15 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 12:110246103-110246103 12:109808298-109808298
16 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 12:110236624-110236624 12:109798819-109798819
17 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 12:110238470-110238470 12:109800665-109800665
18 TRPV4 NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys) single nucleotide variant Likely pathogenic rs267607148 12:110238444-110238444 12:109800639-109800639
19 MT-TL1 NC_012920.1: m.3275C> T single nucleotide variant Uncertain significance rs1057516057 MT:3275-3275 MT:3275-3275
20 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Benign/Likely benign rs187864727 12:110240859-110240859 12:109803054-109803054

Expression for Neuromuscular Disease

Search GEO for disease gene expression data for Neuromuscular Disease.

Pathways for Neuromuscular Disease

GO Terms for Neuromuscular Disease

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.77 SMN2 SMN1 NEFL DMD DCTN1
2 Z disc GO:0030018 9.63 SYNC SMN2 SMN1 RYR1 DMD DES
3 filopodium GO:0030175 9.56 UTRN TRPV4 MTM1 DMD
4 dystrophin-associated glycoprotein complex GO:0016010 9.51 UTRN DMD
5 SMN-Sm protein complex GO:0034719 9.49 SMN2 SMN1
6 filopodium membrane GO:0031527 9.48 UTRN DMD
7 SMN complex GO:0032797 9.46 SMN2 SMN1
8 Gemini of coiled bodies GO:0097504 9.43 SMN2 SMN1
9 sarcolemma GO:0042383 9.43 UTRN SYNC RYR1 LAMA2 DMD DES
10 neurofilament GO:0005883 9.4 NEFL DMD
11 neuromuscular junction GO:0031594 9.1 UTRN SYNC NEFL MUSK LAMA2 DES
12 cytoplasm GO:0005737 10.13 UTRN SMN2 SMN1 RYR1 PABPN1 NEFL

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.58 UTRN LAMA2 DMD
2 cellular calcium ion homeostasis GO:0006874 9.54 TRPV4 RYR1 DMPK
3 import into nucleus GO:0051170 9.46 SMN2 SMN1
4 muscle cell cellular homeostasis GO:0046716 9.43 MTM1 DMD
5 neuromuscular junction development GO:0007528 9.33 UTRN MUSK DCTN1
6 response to denervation involved in regulation of muscle adaptation GO:0014894 9.32 UTRN DMD
7 DNA-templated transcription, termination GO:0006353 9.26 SMN2 SMN1
8 intermediate filament organization GO:0045109 9.13 NEFL MTM1 DES
9 muscle contraction GO:0006936 9.02 UTRN SCN4A RYR1 PABPN1 DES

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 TRPV4 SMN2 SMN1 NEFL HSPB8 DES
2 structural constituent of cytoskeleton GO:0005200 9.33 NEFL DMD DES
3 vinculin binding GO:0017166 8.96 UTRN DMD
4 structural molecule activity GO:0005198 8.8 NEFL MPZ LAMA2
5 protein binding GO:0005515 10.16 UTRN TRPV4 SMN2 SMN1 RYR1 PMP22

Sources for Neuromuscular Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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