MCID: NRM005
MIFTS: 64

Neuromuscular Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Neuromuscular Disease

MalaCards integrated aliases for Neuromuscular Disease:

Name: Neuromuscular Disease 12 58 29 6 15 17
Neuromuscular Diseases 54 43 15 71
Neuromuscular Disorders 42
Neuromuscular Disorder 39

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:440
ICD9CM 34 358
MeSH 43 D009468
SNOMED-CT 67 255522009
ICD10 32 G70.9
MESH via Orphanet 44 D009468
UMLS via Orphanet 72 C0027868
Orphanet 58 ORPHA68381
UMLS 71 C0027868

Summaries for Neuromuscular Disease

MedlinePlus : 42 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 unknown. 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 spinal muscular atrophy and central core disease of muscle, and has symptoms including seizures, myoclonus and tremor. An important gene associated with Neuromuscular Disease is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Cardiac conduction and Cytoskeletal Signaling. The drugs Riluzole and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and lung, and related phenotypes are Decreased viability and Decreased viability

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

Wikipedia : 74 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 717)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 33.9 TRPV4 SMN2 SMN1 RYR1 LMNA HSPB8
2 central core disease of muscle 33.8 RYR1 DES
3 charcot-marie-tooth disease 33.7 TRPV4 SMN2 SMN1 SCN4A LMNA HSPB8
4 myopathy, myofibrillar, 1 33.7 TTN SYNC LMNA DMD DES
5 muscular dystrophy 33.3 UTRN TTN SYNC SCN4A RYR1 PABPN1
6 myopathy 33.3 UTRN TTN SYNC SMN1 SCN4A RYR1
7 oculopharyngeal muscular dystrophy 33.3 PABPN1 MYH7 DMPK
8 werdnig-hoffman disease 33.2 TTN DES
9 myofibrillar myopathy 33.2 TTN SYNC MYH7 LMNA HSPB8 GNE
10 emery-dreifuss muscular dystrophy 1, x-linked 33.1 LMNA EMD
11 isolated elevated serum creatine phosphokinase levels 33.0 TTN SCN4A RYR1 LMNA LAMA2 GNE
12 neuronopathy, distal hereditary motor, type va 32.8 SMN2 SMN1 HSPB8 DCTN1
13 spinal muscular atrophy, distal, autosomal recessive, 2 32.8 TRPV4 LAMA2 HSPB8
14 myopathy, myofibrillar, 2 32.8 SYNC HSPB8 DMD
15 myopathy, myofibrillar, 3 32.8 TTN SYNC DMD
16 muscular atrophy 32.6 TRPV4 SMN2 SMN1 RYR1 LMNA HSPB8
17 respiratory failure 32.6 TTN RYR1 MYH7 LAMA2 DMD DCTN1
18 muscular dystrophy, duchenne type 32.5 UTRN TTN LAMA2 DMD DES
19 limb-girdle muscular dystrophy 32.1 TTN LMNA LAMA2 EMD DMD
20 muscular dystrophy, congenital, lmna-related 32.0 TTN PABPN1 MYH7 LMNA LAMA2 EMD
21 myopathy, congenital 32.0 TTN RYR1 MYH7 DMD ACTA1
22 motor neuron disease 32.0 TRPV4 SMN2 SMN1 DCTN1
23 muscular disease 31.9 UTRN TTN SMN2 SMN1 RYR1 PABPN1
24 myositis 31.9 TTN RYR1 GNE DMD
25 malignant hyperthermia 31.9 SCN4A RYR1 MYH7 LAMA2 DMD
26 muscular dystrophy, becker type 31.9 UTRN SYNC LAMA2 DMD
27 peripheral nervous system disease 31.8 TRPV4 SMN2 SMN1 SCN4A RYR1 LMNA
28 ptosis 31.7 TTN SCN4A RYR1 PABPN1 LAMA2 DMPK
29 facioscapulohumeral muscular dystrophy 1 31.6 PABPN1 LMNA DMPK DMD
30 atrial standstill 1 31.6 UTRN TTN MYH7 LMNA EMD DMD
31 dilated cardiomyopathy 31.6 TTN MYH7 LMNA LAMA2 EMD DMD
32 centronuclear myopathy 31.6 TTN RYR1 DMD DES ACTA1
33 congenital myasthenic syndrome 31.6 UTRN TTN SCN4A RYR1 EMD
34 miyoshi muscular dystrophy 31.6 TTN MYH7 GNE DMD DES
35 dystrophinopathies 31.6 UTRN DMD
36 myotonia 31.6 SCN4A DMPK
37 congenital fiber-type disproportion 31.5 TTN RYR1 MYH7 LMNA LAMA2 EMD
38 emery-dreifuss muscular dystrophy 31.4 LMNA LAMA2 EMD DMD DES
39 left ventricular noncompaction 31.4 TTN MYH7 LMNA DMD DES
40 bethlem myopathy 1 31.3 UTRN RYR1 MYH7 LMNA LAMA2 EMD
41 hypertrophic cardiomyopathy 31.3 TTN MYH7 LMNA LAMA2 EMD DMD
42 arrhythmogenic right ventricular cardiomyopathy 31.2 TTN RYR1 MYH7 LMNA LAMA2 EMD
43 spinal and bulbar muscular atrophy, x-linked 1 31.1 SMN2 SMN1 HSPB8 DMPK DCTN1
44 foot drop 31.1 TTN ACTA1
45 rigid spine muscular dystrophy 1 31.1 TTN RYR1 MYH7 LMNA LAMA2 DMD
46 restrictive cardiomyopathy 31.1 TTN MYH7 LMNA DMD DES ACTA1
47 walker-warburg syndrome 31.0 UTRN LMNA LAMA2 GNE EMD DMD
48 autosomal recessive limb-girdle muscular dystrophy 30.9 TTN LAMA2 GNE DMD DES
49 charcot-marie-tooth disease, axonal, type 2e 30.9 TRPV4 SMN2 SMN1 LMNA HSPB8 DCTN1
50 muscular dystrophy, limb-girdle, autosomal recessive 7 30.9 TTN DMD

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

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.84 DCTN1 DMPK
2 Decreased viability GR00107-A-1 9.84 HSPB8
3 Decreased viability GR00154-A 9.84 GNE
4 Decreased viability GR00221-A-1 9.84 DMPK GNE HSPB8
5 Decreased viability GR00221-A-2 9.84 DMPK TTN
6 Decreased viability GR00221-A-3 9.84 DMPK GNE
7 Decreased viability GR00221-A-4 9.84 DMPK GNE HSPB8 TTN
8 Decreased viability GR00240-S-1 9.84 LMNA SMN2
9 Decreased viability GR00249-S 9.84 DCTN1 DMPK LMNA RYR1 SCN4A TRPV4
10 Decreased viability GR00301-A 9.84 HSPB8
11 Decreased viability GR00342-S-1 9.84 TTN
12 Decreased viability GR00342-S-3 9.84 TTN
13 Decreased viability GR00381-A-1 9.84 LAMA2 SYNC
14 Decreased viability GR00386-A-1 9.84 LMNA SYNC
15 Decreased viability GR00402-S-2 9.84 DMD PABPN1 SYNC

MGI Mouse Phenotypes related to Neuromuscular Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ACTA1 DCTN1 DES DMD EMD GNE
2 homeostasis/metabolism MP:0005376 10.3 ACTA1 DCTN1 DES DMD DMPK EMD
3 cardiovascular system MP:0005385 10.25 DES DMD DMPK EMD GNE HSPB8
4 mortality/aging MP:0010768 10.13 ACTA1 DCTN1 DES DMD GNE HSPB8
5 muscle MP:0005369 10.13 ACTA1 DCTN1 DES DMD DMPK EMD
6 cellular MP:0005384 10.11 DCTN1 DES DMD EMD HSPB8 LAMA2
7 respiratory system MP:0005388 9.61 DMD HSPB8 LAMA2 LMNA RYR1 SCN4A
8 skeleton MP:0005390 9.28 ACTA1 DCTN1 DMD LAMA2 LMNA RYR1

Drugs & Therapeutics for Neuromuscular Disease

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

(show top 50) (show all 239)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
4
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
5
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
6
Ibuprofen Approved Phase 4 15687-27-1 3672
7
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
8
Azathioprine Approved Phase 4 446-86-6 2265
9
Capsaicin Approved Phase 4 404-86-4 1548943
10 Ancrod Approved, Investigational Phase 4 9046-56-4
11
Acetaminophen Approved Phase 4 103-90-2 1983
12 Anesthetics, Local Phase 4
13 Neurotransmitter Agents Phase 4
14 Anti-Infective Agents Phase 4
15 Antimetabolites Phase 4
16 Respiratory System Agents Phase 4
17 Immunologic Factors Phase 4
18 Immunosuppressive Agents Phase 4
19 Dermatologic Agents Phase 4
20 Antirheumatic Agents Phase 4
21 Anticonvulsants Phase 4
22 Anti-Arrhythmia Agents Phase 4
23 Tocolytic Agents Phase 4
24 Calcium, Dietary Phase 4
25 calcium channel blockers Phase 4
26 Cyclooxygenase Inhibitors Phase 4
27 Anti-Inflammatory Agents, Non-Steroidal Phase 4
28 Anti-Bacterial Agents Phase 4
29 Antibiotics, Antitubercular Phase 4
30 Adrenergic Agents Phase 4
31 Adrenergic Agonists Phase 4
32 Anthelmintics Phase 4
33 Amebicides Phase 4
34 Chloroquine diphosphate Phase 4 50-63-5
35 Antiprotozoal Agents Phase 4
36 Antiparasitic Agents Phase 4
37 Antimalarials Phase 4
38 Adrenergic beta-Agonists Phase 4
39 Anti-Asthmatic Agents Phase 4
40 Albuterol Phase 4
41 Bronchodilator Agents Phase 4
42 Analgesics, Non-Narcotic Phase 4
43 Analgesics Phase 4
44 Antipyretics Phase 4
45
Calcium Nutraceutical Phase 4 7440-70-2 271
46
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
47
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
48
Clevidipine Approved, Investigational Phase 2, Phase 3 167221-71-8
49
Deflazacort Approved, Investigational Phase 3 14484-47-0
50
Edaravone Approved, Investigational Phase 2, Phase 3 89-25-8 70335

Interventional clinical trials:

(show top 50) (show all 476)
# 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 Efficiency of Thoracolumbar Interfascial Plane Block in Lumbar Disk Surgery Unknown status NCT03180099 Phase 4 Bupivacaine;Bupivacaine
5 Role of Non-invasive Ventilation in Amyotrophic Lateral Sclerosis: Volume Versus Pressure Mode Unknown status NCT00560287 Phase 4
6 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
7 Effects of Magnesium Sulphate on Sugammadex Reversal of Rocuronium Induced Blockade in Gynaecology Patients Completed NCT01972659 Phase 4 placebo;Magnesium Sulphate;sugammadex
8 The Effect of Dexamethasone on Sugammadex Reversal in Pediatric Patients Undergoing Adenotonsillectomy: a Randomized, Placebo-controlled Study Completed NCT02137395 Phase 4 Dexamethasone;Placebo
9 Minimal Optimal Dose of Sugammadex in Elective Surgery Completed NCT03515694 Phase 4 Sugammadex Injection [Bridion]
10 The Effects of Acetaminophen and Ibuprofen With and Without Magnesium in the Treatment of Primary Migraine in Childhood Completed NCT01756209 Phase 4 Magnesium 400Mg;Ibuprofen 10 mg/kg;acetaminophen 15 mg/kg
11 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
12 Evaluation of Motor Unit Abnormalities After Experimentally Induced Sensitization Using Capsaicin: A Randomized, Double-Blinded, Placebo-Controlled Study Completed NCT04361149 Phase 4 Capsaicin Topical Cream (0.075%)
13 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
14 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
15 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
16 Effect of Myofascial Release on Electrophysiological and Clinical Measures of Pregnant Women With Carpal Tunnel Syndrome Completed NCT03802448 Phase 4
17 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
18 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
19 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
20 Effect of Servo-Ventilation on CO2 Regulation and Heart Rate Variability Not yet recruiting NCT03890939 Phase 4
21 Evaluation of the Effects of Long Term Non-Invasive Ventilation in Patient With Cystic Fibrosis and Chronic Hypercapnic Respiratory Failure. Terminated NCT00208078 Phase 4
22 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)
23 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
24 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
25 The Evaluation of the Astral VAPS AutoEPAP Treatment Algorithm Completed NCT02683772 Phase 3
26 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
27 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
28 Evaluation of the Safety, Tolerability, Efficacy and Activity of AMX0035, a Fixed Combination of Phenylbutyrate (PB) and Tauroursodeoxycholic Acid (TUDCA), for the Treatment of ALS Completed NCT03127514 Phase 2, Phase 3 AMX0035
29 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
30 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
31 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
32 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
33 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
34 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
35 Speech Effects of a Speaking Valve Versus External PEEP in Tracheostomized Ventilator-Dependent Neuromuscular Patients Completed NCT00978783 Phase 2, Phase 3
36 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
37 Effects of OroPharyngeal Exercises on Patients With Moderate Obstructive Sleep Apnea: A Randomized, Controlled Study Completed NCT00660777 Phase 3
38 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
39 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
40 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
41 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) Active, not recruiting NCT02549170 Phase 3
42 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent
43 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 Enrolling by invitation NCT03805152 Phase 3 Neuronox(R);Dysport (R)
44 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
45 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
46 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
47 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
48 Autologous Bone Marrow Transplantation for Muscle Improvement in Traumatic Brachial Plexus Injuries Unknown status NCT00755586 Phase 1, Phase 2
49 Treatment of Temporo-Myofascial Disorder of Muscular Origin Using Botulinum Toxin: A Prospective Study Unknown status NCT02810015 Phase 2 Botulinum Toxin Type A
50 A Clinical Trial to Optimise Patient-ventilator Interaction in Patients With Chronic Respiratory Failure Completed NCT01371149 Phase 2

Search NIH Clinical Center for Neuromuscular Disease

Cochrane evidence based reviews: neuromuscular diseases

Genetic Tests for Neuromuscular Disease

Genetic tests related to Neuromuscular Disease:

# Genetic test Affiliating Genes
1 Neuromuscular Disease 29

Anatomical Context for Neuromuscular Disease

MalaCards organs/tissues related to Neuromuscular Disease:

40
Skeletal Muscle, Testes, Lung, Bone, Brain, Heart, Spinal Cord

Publications for Neuromuscular Disease

Articles related to Neuromuscular Disease:

(show top 50) (show all 5930)
# Title Authors PMID Year
1
Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network. 42 61
32354651 2020
2
COVID-19 and neuromuscular disorders. 42 61
32284362 2020
3
Cannabis-based medicinal products: summary of NICE guidance. 42
32317246 2020
4
Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway. 54 61
20346670 2010
5
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. 61 54
20234094 2010
6
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. 61 54
19291799 2009
7
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. 54 61
19416897 2009
8
Effect of newly proposed CK reference limits on neuromuscular diagnosis. 61 54
19260057 2009
9
Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. 54 61
18923150 2009
10
SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. 54 61
18689355 2008
11
Dysferlinopathies. 61 54
18974555 2008
12
Syncoilin is required for generating maximum isometric stress in skeletal muscle but dispensable for muscle cytoarchitecture. 54 61
18367591 2008
13
Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy. 54 61
18078930 2008
14
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. 61 54
17538032 2008
15
Endoplasmic reticulum stress induces myostatin precursor protein and NF-kappaB in cultured human muscle fibers: relevance to inclusion body myositis. 61 54
17261282 2007
16
High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm. 61 54
17122938 2006
17
[The C-terminal fragment of thymopoietin forms F-actin bundles: electron microscopic data]. 61 54
17131816 2006
18
Presymptomatic neuromuscular disorders disclosed following statin treatment. 61 54
16864763 2006
19
Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. 61 54
16439605 2006
20
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. 54 61
16288872 2005
21
Syncoilin upregulation in muscle of patients with neuromuscular disease. 61 54
16124004 2005
22
Mitochondrial respiratory chain dysfunction in various neuromuscular diseases. 54 61
15925774 2005
23
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. 54 61
15832310 2005
24
Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. 54 61
15862279 2005
25
The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. 54 61
15835271 2005
26
Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice. 54 61
15757977 2005
27
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 54 61
15580564 2005
28
The prion protein in human neuromuscular diseases. 61 54
15476279 2004
29
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 54 61
15236405 2004
30
Determination of SMN1 and SMN2 copy number using TaqMan technology. 61 54
12815596 2003
31
Nuclear envelope proteins and neuromuscular diseases. 61 54
12661041 2003
32
Abnormal contractile activity and calcium cycling in cardiac myocytes isolated from DMPK knockout mice. 61 54
12595579 2003
33
Direct deletion analysis in two Duchenne muscular dystrophy symptomatic females using polymorphic dinucleotide (CA)n loci within the dystrophin gene. 61 54
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. 54 61
12244096 2002
35
SMN-mediated assembly of RNPs: a complex story. 54 61
12441251 2002
36
Sp1 and the ets-related transcription factor complex GABP alpha/beta functionally cooperate to activate the utrophin promoter. 54 61
11997063 2002
37
Diagnosis of dystrophinopathy by skin biopsy. 61 54
11870717 2002
38
Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. 54 61
11592825 2001
39
Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. 54 61
11003790 2000
40
CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI. 61 54
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. 61 54
10899449 2000
42
Expression of thrombomodulin, caveolin-3, and desmin on muscle fibers in neuromuscular diseases. 54 61
10567086 1999
43
The up-regulation of utrophin is not limited to muscular dystrophies. 61 54
10707847 1999
44
CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia. 61 54
10480373 1999
45
Localization of survival motor neuron protein in human apoptotic-like and regenerating muscle fibers, and neuromuscular junctions. 61 54
10501549 1999
46
Increased expression of glial cell line-derived neurotrophic factor mRNA in muscle biopsies from patients with amyotrophic lateral sclerosis. 61 54
10202982 1999
47
Up-regulation of glial cell line-derived neurotrophic factor (GDNF) expression in regenerating muscle fibers in neuromuscular diseases. 54 61
9870346 1998
48
GDNF expression is increased in denervated human skeletal muscle. 54 61
9697925 1998
49
The role of the SMN gene in proximal spinal muscular atrophy. 61 54
9735373 1998
50
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. 54 61
9323130 1997

Variations for Neuromuscular Disease

ClinVar genetic disease variations for Neuromuscular Disease:

6 (show all 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4):c.1781G>A (p.Arg594His)SNV Pathogenic 4994 rs77975504 12:110230500-110230500 12:109792695-109792695
2 TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys)SNV Pathogenic 5001 rs267607145 12:110236625-110236625 12:109798820-109798820
3 TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys)SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666
4 TRPV4 NM_021625.4(TRPV4):c.2396C>G (p.Pro799Arg)SNV Pathogenic 18432 rs121912637 12:110222183-110222183 12:109784378-109784378
5 TRPV4 NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys)SNV Pathogenic 18435 rs267607149 12:110222190-110222190 12:109784385-109784385
6 TRPV4 NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr)SNV Pathogenic 30469 rs387906902 12:110231365-110231365 12:109793560-109793560
7 TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys)SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009
8 TRPV4 NM_021625.4(TRPV4):c.232G>T (p.Gly78Trp)SNV Pathogenic 30474 rs397514474 12:110252370-110252370 12:109814565-109814565
9 TRPV4 NM_021625.4(TRPV4):c.2219C>T (p.Thr740Ile)SNV Pathogenic 30475 rs387906906 12:110224632-110224632 12:109786827-109786827
10 TRPV4 NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu)SNV Pathogenic 30476 rs387906907 12:110238450-110238450 12:109800645-109800645
11 MYH7 NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del)short repeat Pathogenic 42096 rs367543052 14:23884685-23884687 14:23415476-23415478
12 LMNA NM_170707.4(LMNA):c.1608+1G>ASNV Pathogenic 66853 rs267607592 1:156107024-156107024 1:156137233-156137233
13 TRPV4 NM_021625.4(TRPV4):c.1772A>G (p.Tyr591Cys)SNV Pathogenic 126467 rs515726157 12:110230509-110230509 12:109792704-109792704
14 TRPV4 NM_021625.4(TRPV4):c.2396_2412del (p.Pro799fs)deletion Pathogenic 126478 rs515726166 12:110222167-110222183 12:109784362-109784378
15 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)SNV Pathogenic 159856 rs200563280 19:38987106-38987106 19:38496466-38496466
16 EMD NM_000117.3(EMD):c.266-2A>GSNV Pathogenic 163403 rs727503036 X:153608592-153608592 X:154380232-154380232
17 EMD NM_000117.2(EMD):c.650_654dupTGGGCshort repeat Pathogenic 179133 rs730880352 X:153609432-153609433 X:154381072-154381073
18 ACTA1 NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg)SNV Pathogenic 228243 rs121909525 1:229567741-229567741 1:229431994-229431994
19 DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter)SNV Pathogenic/Likely pathogenic 177872 rs150974575 2:220288539-220288539 2:219423817-219423817
20 LMNA NM_170707.4(LMNA):c.1609-3C>GSNV Pathogenic/Likely pathogenic 66856 rs267607581 1:156107442-156107442 1:156137651-156137651
21 DES NM_001927.4(DES):c.1360C>T (p.Arg454Trp)SNV Pathogenic/Likely pathogenic 66402 rs267607490 2:220290456-220290456 2:219425734-219425734
22 DES NM_001927.4(DES):c.35C>T (p.Ser12Phe)SNV Pathogenic/Likely pathogenic 66412 rs267607495 2:220283219-220283219 2:219418497-219418497
23 LMNA NM_170707.4(LMNA):c.1146C>T (p.Gly382=)SNV Pathogenic/Likely pathogenic 48032 rs57508089 1:156105901-156105901 1:156136110-156136110
24 TRPV4 NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln)SNV Pathogenic/Likely pathogenic 39419 rs397514494 12:110246103-110246103 12:109808298-109808298
25 TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His)SNV Pathogenic/Likely pathogenic 30473 rs387906905 12:110236624-110236624 12:109798819-109798819
26 TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp)SNV Pathogenic/Likely pathogenic 4999 rs267607143 12:110236628-110236628 12:109798823-109798823
27 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His)SNV Pathogenic/Likely pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665
28 TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile)SNV Pathogenic/Likely pathogenic 4993 rs121912633 12:110230201-110230201 12:109792396-109792396
29 TRPV4 NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys)SNV Likely pathogenic 18434 rs267607148 12:110238444-110238444 12:109800639-109800639
30 SGCD NM_000337.5(SGCD):c.390del (p.Ala131fs)deletion Likely pathogenic 48118 rs397517921 5:156021946-156021946 5:156594936-156594936
31 MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)SNV Likely pathogenic 43069 rs397516248 14:23884362-23884362 14:23415153-23415153
32 TTN NM_001267550.2(TTN):c.15496+1G>ASNV Likely pathogenic 46601 rs397517481 2:179599054-179599054 2:178734327-178734327
33 SGCD NM_000337.5(SGCD):c.294+1G>ASNV Likely pathogenic 165232 rs727503422 5:155935713-155935713 5:156508703-156508703
34 TTN NM_001267550.2(TTN):c.76389_76392AACA[1] (p.Thr25464_Asn25465insTer)short repeat Likely pathogenic 242625 rs727504483 2:179434463-179434466 2:178569736-178569739
35 DES NM_001927.4(DES):c.600del (p.Lys201fs)deletion Likely pathogenic 178660 rs727504448 2:220284838-220284838 2:219420116-219420116
36 EMD NM_000117.3(EMD):c.83-2A>GSNV Likely pathogenic 179496 rs727504901 X:153608048-153608048 X:154379688-154379688
37 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)SNV Conflicting interpretations of pathogenicity 133012 rs193922839 19:39025415-39025415 19:38534775-38534775
38 LDB3 NM_007078.3(LDB3):c.690-4678C>TSNV Conflicting interpretations of pathogenicity 4728 rs121908334 10:88446975-88446975 10:86687218-86687218
39 RYR1 NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)SNV Conflicting interpretations of pathogenicity 133075 rs193922879 19:39071022-39071022 19:38580382-38580382
40 TRPV4 NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser)SNV Benign/Likely benign 126480 rs187864727 12:110240859-110240859 12:109803054-109803054
41 MT-TL1 NC_012920.1:m.3275C>TSNV Benign 370045 rs1057516057 MT:3275-3275 MT:3275-3275
42 TTN NM_001267550.2(TTN):c.106019del (p.Gly35340fs)deletion no interpretation for the single variant 242624 rs727504482 2:179395323-179395323 2:178530596-178530596

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 15)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.31 TTN SYNC SMN2 SMN1 LMNA HSPB8
2 cytoplasm GO:0005737 10.22 UTRN TTN SYNC SMN2 SMN1 RYR1
3 nuclear body GO:0016604 9.85 SMN2 SMN1 LMNA HSPB8
4 axon GO:0030424 9.77 SMN2 SMN1 SCN4A DMD DCTN1
5 sarcomere GO:0030017 9.58 TTN MYH7 ACTA1
6 filopodium GO:0030175 9.56 UTRN TRPV4 DMD ACTA1
7 SMN-Sm protein complex GO:0034719 9.52 SMN2 SMN1
8 filopodium membrane GO:0031527 9.51 UTRN DMD
9 dystrophin-associated glycoprotein complex GO:0016010 9.49 UTRN DMD
10 striated muscle thin filament GO:0005865 9.48 TTN ACTA1
11 Gemini of coiled bodies GO:0097504 9.46 SMN2 SMN1
12 neuromuscular junction GO:0031594 9.46 UTRN SYNC LAMA2 DES
13 SMN complex GO:0032797 9.43 SMN2 SMN1
14 sarcolemma GO:0042383 9.43 UTRN SYNC RYR1 LAMA2 DMD DES
15 Z disc GO:0030018 9.23 TTN SYNC SMN2 SMN1 RYR1 MYH7

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.63 TRPV4 RYR1 DMPK
2 nuclear envelope organization GO:0006998 9.49 LMNA DMPK
3 striated muscle contraction GO:0006941 9.48 TTN MYH7
4 muscle organ development GO:0007517 9.46 UTRN LAMA2 EMD DMD
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 UTRN DMD
6 cardiac muscle contraction GO:0060048 9.43 TTN MYH7 DMD
7 DNA-templated transcription, termination GO:0006353 9.4 SMN2 SMN1
8 mitotic nuclear envelope reassembly GO:0007084 9.37 LMNA EMD
9 muscle filament sliding GO:0030049 9.35 TTN MYH7 DMD DES ACTA1
10 skeletal muscle thin filament assembly GO:0030240 9.32 TTN ACTA1
11 muscle contraction GO:0006936 9.28 UTRN TTN SCN4A RYR1 PABPN1 MYH7

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.95 TTN TRPV4 RYR1 MYH7 GNE DMPK
2 protein binding GO:0005515 9.91 UTRN TTN TRPV4 SMN2 SMN1 SCN4A
3 actin filament binding GO:0051015 9.56 UTRN TTN TRPV4 MYH7
4 structural constituent of cytoskeleton GO:0005200 9.54 DMD DES ACTA1
5 calmodulin binding GO:0005516 9.46 TTN TRPV4 RYR1 MYH7
6 vinculin binding GO:0017166 9.32 UTRN DMD
7 actin binding GO:0003779 9.02 UTRN TRPV4 MYH7 EMD DMD

Sources for Neuromuscular Disease

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