MCID: NRM005
MIFTS: 58

Neuromuscular Disease

Categories: Nephrological diseases, Neuronal diseases

Aliases & Classifications for Neuromuscular Disease

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 central core disease of muscle 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 Agrin Interactions at Neuromuscular Junction. The drugs Imipramine and Pregabalin have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and bone, and related phenotypes are Decreased viability and Decreased viability

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

Wikipedia : 76 Neuromuscular disease is a very 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 261)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 32.9 DES GAA RYR1
2 spinal muscular atrophy, type ii 32.4 SMN1 SMN2
3 spinal muscular atrophy, distal, autosomal recessive, 1 31.9 SMN1 SMN2
4 spinal muscular atrophy, type iii 31.8 SMN1 SMN2
5 charcot-marie-tooth disease 31.6 DCTN1 HSPB8 MPZ MTM1 PMP22 TRPV4
6 roussy-levy hereditary areflexic dystasia 31.6 MPZ PMP22
7 spinal muscular atrophy, type iv 31.6 SMN1 SMN2
8 brody myopathy 31.5 DMD RYR1
9 myofibrillar myopathy 31.4 DES DMD HSPB8 SYNC
10 rigid spine muscular dystrophy 1 31.3 DMD GAA LAMA2 RYR1
11 congenital myasthenic syndrome 31.3 MUSK RYR1 SCN4A UTRN
12 respiratory failure 30.8 DCTN1 GAA LAMA2
13 muscular atrophy 30.4 SMN1 SMN2 TRPV4
14 foot drop 30.4 MPZ PMP22
15 muscular dystrophy 30.2 DES DMD DMPK GAA GNE LAMA2
16 malignant hyperthermia 30.0 DMD LAMA2 RYR1 SCN4A
17 myopathy 29.9 DES GAA GNE MTM1 RYR1
18 proximal spinal muscular atrophy 29.8 DES SMN1 SMN2
19 centronuclear myopathy 29.8 DMD MTM1 RYR1
20 muscular dystrophy, becker type 29.8 DMD LAMA2 UTRN
21 tooth disease 29.7 HSPB8 MPZ PMP22 TRPV4
22 myotonia 29.7 DMPK SCN4A
23 myopathy, congenital 29.7 DMD GAA MTM1 RYR1
24 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 29.6 HSPB8 MPZ MTM1 PMP22
25 ophthalmoplegic neuromuscular disorder with abnormal mitochondria 12.2
26 spinal muscular atrophy, type i 11.4
27 myasthenia gravis 11.4
28 emery-dreifuss muscular dystrophy 1, x-linked 11.4
29 lateral sclerosis 11.3
30 kearns-sayre syndrome 11.2
31 spinal muscular atrophy 11.2
32 primary lateral sclerosis, adult, 1 10.9
33 neuronopathy, distal hereditary motor, type viia 10.9
34 neuronopathy, distal hereditary motor, type iia 10.9
35 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 10.9
36 spinal muscular atrophy with progressive myoclonic epilepsy 10.9
37 minicore myopathy with external ophthalmoplegia 10.9
38 spinal muscular atrophy, distal, x-linked 3 10.9
39 cowchock syndrome 10.9
40 spinal and bulbar muscular atrophy, x-linked 1 10.9
41 myopathy, myofibrillar, 1 10.9
42 neuronopathy, distal hereditary motor, type viib 10.9
43 neuronopathy, distal hereditary motor, type iib 10.9
44 spinal muscular atrophy, distal, autosomal recessive, 4 10.9
45 myopathy, myofibrillar, 6 10.9
46 neuronopathy, distal hereditary motor, type iic 10.9
47 myopathy - thyrotoxic 10.9
48 oculopharyngeal muscular dystrophy 10.8
49 mitochondrial myopathy 10.8
50 myopathy, congenital, bailey-bloch 10.8

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 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.28 MUSK
2 Decreased viability GR00106-A-0 10.28 DCTN1 DMPK
3 Decreased viability GR00107-A-1 10.28 HSPB8
4 Decreased viability GR00173-A 10.28 MUSK
5 Decreased viability GR00221-A-1 10.28 DMPK GNE HSPB8 MUSK
6 Decreased viability GR00221-A-2 10.28 DMPK
7 Decreased viability GR00221-A-3 10.28 DMPK GNE
8 Decreased viability GR00221-A-4 10.28 DMPK GNE HSPB8 MUSK
9 Decreased viability GR00240-S-1 10.28 SMN2
10 Decreased viability GR00301-A 10.28 HSPB8
11 Decreased viability GR00381-A-1 10.28 LAMA2 MPZ SYNC
12 Decreased viability GR00381-A-3 10.28 MPZ
13 Decreased viability GR00402-S-2 10.28 DCTN1 DES DMD DMPK GAA GNE
14 no effect GR00402-S-1 9.62 DCTN1 DES DMD DMPK GAA GNE

MGI Mouse Phenotypes related to Neuromuscular Disease:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 DCTN1 DES DMD GAA GNE LAMA2
2 homeostasis/metabolism MP:0005376 10.35 DCTN1 DES DMD DMPK GAA GNE
3 cellular MP:0005384 10.27 DCTN1 DES DMD GAA HSPB8 LAMA2
4 cardiovascular system MP:0005385 10.26 DES DMD DMPK GAA GNE HSPB8
5 growth/size/body region MP:0005378 10.17 DMD GAA GNE LAMA2 MTM1 MUSK
6 mortality/aging MP:0010768 10.13 DCTN1 DES DMD GNE HSPB8 LAMA2
7 muscle MP:0005369 10.11 DCTN1 DES DMD DMPK GAA GNE
8 hearing/vestibular/ear MP:0005377 9.88 DMD LAMA2 PMP22 SCN4A SMN2 TRPV4
9 limbs/digits/tail MP:0005371 9.8 DCTN1 DMD PMP22 RYR1 SMN2 UTRN
10 respiratory system MP:0005388 9.61 DMD HSPB8 MTM1 MUSK RYR1 SCN4A
11 skeleton MP:0005390 9.28 DCTN1 DMD GAA LAMA2 MTM1 MUSK

Drugs & Therapeutics for Neuromuscular Disease

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

(show top 50) (show all 972)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imipramine Approved Phase 4 50-49-7 3696
2
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 148553-50-8 5486971
3
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 56-12-2 119
4
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 60142-96-3 3446
5
Naltrexone Approved, Investigational, Vet_approved Phase 4,Not Applicable 16590-41-3 5360515
6
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 94-09-7, 1994-09-7 2337
7
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 92623-85-3 65833
8 tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9
Etoricoxib Approved, Investigational Phase 4,Phase 2,Phase 1 202409-33-4 123619
10
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-61-6, 62-31-7 681
11
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
12
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 378-44-9 9782
13
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
14
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 303-53-7 2895
15
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-48-6 2160
16
Pirfenidone Approved, Investigational Phase 4,Phase 2,Phase 1 53179-13-8 40632
17
Ibuprofen Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 15687-27-1 3672
18
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 103-90-2 1983
19
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 57-27-2 5288826
20
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-39-9 4748
21
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 6740-88-1 3821
22
Ramipril Approved Phase 4 87333-19-5 5362129
23
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
24
Capsaicin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 404-86-4 1548943
25
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1744-22-5 5070
26
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
27
Levobupivacaine Approved, Investigational Phase 4,Phase 3,Not Applicable 27262-47-1 92253
28
Ropivacaine Approved Phase 4,Phase 3,Phase 2,Not Applicable 84057-95-4 175805 71273
29
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2180-92-9, 38396-39-3 2474
30
Racepinephrine Approved Phase 4,Not Applicable 329-65-7 838
31
Epinephrine Approved, Vet_approved Phase 4,Not Applicable 51-43-4 5816
32
Naloxone Approved, Vet_approved Phase 4,Phase 2 465-65-6 5284596
33
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 76-42-6 5284603
34
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 13422-55-4
35
Hydroxocobalamin Approved Phase 4,Phase 3,Phase 2,Not Applicable 13422-51-0 11953898 44475014
36
Nabilone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 51022-71-0 5284592
37
Nortriptyline Approved Phase 4,Phase 2,Not Applicable 72-69-5 4543
38
Citalopram Approved Phase 4,Phase 3,Not Applicable 59729-33-8 2771
39
leucovorin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 6006 143
40
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 27203-92-5 33741
41
Acetylcholine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-84-3 187
42
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
43
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 2 10118-90-8 5281021
44
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
45
Carbamazepine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 298-46-4 2554
46
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-24-8 5755
47
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 302-25-0
48
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83-43-2 6741
49
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2921-57-5
50
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 15307-86-5 3033

Interventional clinical trials:

(show top 50) (show all 4672)
# Name Status NCT ID Phase Drugs
1 Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
2 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
3 Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure. Unknown status NCT00331656 Phase 4
4 A Post-marketing Evaluation of a Compound Traditional Chinese Herbal Medicine, Qishe Pill, on Cervical Radiculopathy Unknown status NCT01875562 Phase 4 Qishe Pill
5 Imipramine and Pregabalin Combination in Painful Polyneuropathy Unknown status NCT01047488 Phase 4 Imipramine;Pregabalin;Imipramine, pregabalin;Placebo
6 The Impact of Perioperative Gabapentin on Chronic Groin Pain After Inguinal Hernia Repair Unknown status NCT02419443 Phase 4 Gabapentin;Placebo
7 Bi-Axial Rotating Magnetic Field Therapy in Refractory Neuropathic Foot Pain Secondary to Diabetic Peripheral Neuropathy Unknown status NCT00123136 Phase 4
8 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
9 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
10 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
11 Determination of the Antidepressant Duloxetine in Plasma to Improve the Knowledge of the Analgesic Action of Antidepressants on Chronic Neuropathic Pain Unknown status NCT02846701 Phase 4 duloxetine
12 Transforaminal Epidural Steroid Injection With Pulsed Radiofrequency for Chronic Lumbosacral Radicular Pain Management Unknown status NCT02930057 Phase 4 Celestone;Control
13 Evaluation of the Efficacy, Tolerability and Safety of Etoricoxib (Arcoxia) in Patients With Neuropathic Pain Unknown status NCT01264237 Phase 4 Etoricoxib;Placebo
14 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
15 Percutaneous HydroDiscectomy Compared to TESI for Radiculopathy Unknown status NCT02414698 Phase 4 TESI
16 Conservative Versus Aggressive Discectomy for Primary Disc Herniation With Radiculopathy Unknown status NCT01204008 Phase 4
17 IVIg for Demyelination in Diabetes Mellitus Unknown status NCT02372149 Phase 4 10% intravenous immunoglobulin (IVIg);0.9% sodium chloride
18 Muscular Electrostimulation of the Sedated and Mechanically Ventilated Critically Ill Patient. Analysis of the Effect on Acquired Muscular Weakness and Its Clinical Consequences. Unknown status NCT02033057 Phase 4
19 Pirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
20 Ultrasound-guided Caudal or Interlaminar Corticosteroid Epidural Injection for Sciatica Unknown status NCT02897336 Phase 4
21 Comparison of Intravenous Ibuprofen and Paracetamol in Patients With Sciatica Presented to the Emergency Department Unknown status NCT02777320 Phase 4 paracetamol;Ibuprofen
22 IV Paracetamol vs IV Morphine vs Placebo in Sciatalgia Unknown status NCT02504996 Phase 4 Paracetamol;morphine;Placebo
23 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
24 Preventing Pain After Heart Surgery Unknown status NCT01480765 Phase 4 Pregabalin;Ketamine infusion;Placebo capsules;Placebo infusion
25 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
26 Qutenza for Critical Ischaemia in End Stage Renal Failure Unknown status NCT01704339 Phase 4 QUTENZA
27 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
28 Immunogenicity of 1 or 2 Doses of bOPV in Chilean Infants Primed With IPV Vaccine Unknown status NCT01841671 Phase 4
29 Evaluation of the Impact of Training on Outcome Measures in Subjects With Painful Diabetic Neuropathy Unknown status NCT01770964 Phase 4 Pregabalin;placebo
30 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
31 Pregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4 Pregabalin;Placebo
32 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
33 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
34 Effects of Pregabalin on Mechanical Hyperalgesia Unknown status NCT00310583 Phase 4 Pregabalin
35 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
36 Inspiratory Muscle Training in Patients With Autonomic Neuropathic Unknown status NCT00752440 Phase 4
37 Ambulatory Adaptation to Non-Invasive Mechanical Ventilation Completed NCT00698958 Phase 4
38 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
39 Comparison of the Analgesic Effect of Different Local Anesthetics in Interscalene Nerve Block for Shoulder Surgery Completed NCT02691442 Phase 4 Ropivacaine 0.75%;Levobupivacaine 0.5%;Levobupivacaine 0.5% + epinephrin 1/200000
40 The Effect of α-lipoic Acid Treatment in Patient With Cardiac Autonomic Neuropathy Completed NCT02056366 Phase 4 α-lipoic acid
41 A Study to Assess the Efficacy and Safety of Oxycodone/Naloxone in Korean Patients With Chemotherapy-Induced Peripheral Neuropathy (CIPN) Completed NCT01675531 Phase 4 Targin
42 Intrathecal Bolus Doses of Ziconotide Completed NCT01373983 Phase 4 Ziconotide
43 Safety and Efficacy of Mecobalamin Injection in Peripheral Neuropathies Patients (Study JGAZSY091109) Completed NCT01192113 Phase 4 Mecobalamin IV Injection;Mecobalamin IM injection;Mecobalamin IV or IM injection
44 Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy Completed NCT00380965 Phase 4 Cesamet™ (nabilone)
45 Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations Completed NCT02260388 Phase 4 Nortriptyline;Duloxetine;Pregabalin;Mexiletine
46 Asian Study on Cilostazol Effectivity in Neuropathies of Diabetes Mellitus Type 2-A Pilot Study in the Philippines Completed NCT01076478 Phase 4 Cilostazol
47 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
48 Escitalopram as a Treatment for Pain in Polyneuropathy Completed NCT00162968 Phase 4 escitalopram
49 Arthroplasty Versus Fusion in Anterior Cervical Surgery: Prospective Study of the Impact on the Adjacent Level Completed NCT00554528 Phase 4
50 Prophylactic Administration of Vitamin C in Wrist Fractures Completed NCT00296868 Phase 4 ascorbic acid (vitamin C) versus placebo

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
Testes, Skeletal Muscle, Bone, Lung, Heart, Spinal Cord, Pancreas

Publications for Neuromuscular Disease

Articles related to Neuromuscular Disease:

(show top 50) (show all 1357)
# Title Authors Year
1
Breathing with neuromuscular disease: Does compensatory plasticity in the motor drive to breathe offer a potential therapeutic target in muscular dystrophy? ( 29933052 )
2018
2
Noninvasive Ventilation for Neuromuscular Disease. ( 29779601 )
2018
3
Swallowing and Secretion Management in Neuromuscular Disease. ( 29779602 )
2018
4
The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities. ( 29479275 )
2018
5
Physical exercise in adults with hereditary neuromuscular disease. ( 29947206 )
2018
6
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
7
Respiratory Diagnostic Tools in Neuromuscular Disease. ( 29914128 )
2018
8
Case of paediatric neuromuscular disease with a surprising clinical outcome: time to challenge the dogma? ( 29382800 )
2018
9
Neuromuscular disease-specific questionnaire to assess quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy. ( 29360221 )
2018
10
Reflections on 50 Years of Neuroscience Nursing: Movement Disorders, Neuromuscular Disease, and Multiple Sclerosis. ( 29266080 )
2018
11
New Cav2 calcium channel gating modifiers with agonist activity and therapeutic potential to treat neuromuscular disease. ( 29246857 )
2018
12
The clinical usefulness of a self-administered questionnaire for sleep-disordered breathing in patients with neuromuscular disease. ( 29445539 )
2018
13
Acquired undescended testis and possibly associated testicular torsion in children with cerebral palsy or neuromuscular disease. ( 30219308 )
2018
14
Neuromuscular diseases with hypertrophic cardiomyopathy. ( 30393639 )
2018
15
Malignant hyperthermia: still an issue for neuromuscular diseases? ( 30015672 )
2018
16
Measures of respiratory inductance plethysmography (RIP) in children with neuromuscular disease. ( 29999598 )
2018
17
Assessment of Respiratory Muscle Weakness in Subjects With Neuromuscular Disease. ( 30065077 )
2018
18
Respiratory health service utilization of children with neuromuscular disease. ( 30129703 )
2018
19
Patterns of healthcare utilisation for respiratory complications of adults with neuromuscular disease: a population study. ( 30139772 )
2018
20
Teaching Manually Assisted Cough to Caregivers of Children With Neuromuscular Disease. ( 30254045 )
2018
21
Exploiting the heightened phase synchrony in patients with neuromuscular disease for the establishment of efficient motor imagery BCIs. ( 30373619 )
2018
22
Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology - September 5-7, 2017, Ottawa, Canada. ( 30373960 )
2018
23
Respiratory adjuncts to NIV in neuromuscular disease. ( 30408263 )
2018
24
Comparison of Two Cough-Augmentation Techniques Delivered by Home Ventilator in Subjects With Neuromuscular Disease. ( 30425166 )
2018
25
Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease. ( 30426359 )
2018
26
Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease: Is the 2-minute walk test an effective alternative to a 6-minute walk test? ( 30449663 )
2018
27
The Accuracy of an Ambulatory Level III Sleep Study Compared to a Level I Sleep Study for the Diagnosis of Sleep-Disordered Breathing in Children With Neuromuscular Disease. ( 30518444 )
2018
28
Practical Implementation of a Single-Night Split-Titration Protocol With BPAP-ST and AVAPS in Patients With Neuromuscular Disease. ( 30518448 )
2018
29
Neuromuscular diseases associated with Human Immunodeficiency Virus infection. ( 29571868 )
2018
30
The extremity function index (EFI), a disability severity measure for neuromuscular diseases: psychometric evaluation. ( 28291950 )
2018
31
Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review. ( 28651826 )
2018
32
Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases. ( 29059504 )
2018
33
Evaluation of activities of daily living in patients with slowly progressive neuromuscular diseases. ( 29129380 )
2018
34
Neuromuscular diseases: Diagnosis and management. ( 29196274 )
2018
35
A comprehensive study on automated muscle segmentation for assessing fat infiltration in neuromuscular diseases. ( 29269318 )
2018
36
Five-Year Follow-Up and Outcomes of Noninvasive Ventilation in Subjects With Neuromuscular Diseases. ( 29298901 )
2018
37
Proteomic serum biomarkers for neuromuscular diseases. ( 29338453 )
2018
38
227th ENMC International Workshop:: Finalizing a plan to guarantee quality in translational research for neuromuscular diseases Heemskerk, Netherlands, 10-11 February 2017. ( 29361397 )
2018
39
Next-generation sequencing in neuromuscular diseases: Erratum. ( 29489551 )
2018
40
Relationship between number of drugs and duration of hospital stay in older patients with neuromuscular diseases. ( 29512265 )
2018
41
The prevalence and severity of disease-related disabilities and their impact on quality of life in neuromuscular diseases. ( 29514523 )
2018
42
T2-Weighted Dixon Turbo Spin Echo for Accelerated Simultaneous Grading of Whole-Body Skeletal Muscle Fat Infiltration and Edema in Patients With Neuromuscular Diseases. ( 29613984 )
2018
43
Respiratory Care in Neuromuscular Diseases. ( 29692352 )
2018
44
Recent Advances in Antisense Oligonucleotide Therapy in Genetic Neuromuscular Diseases. ( 29720791 )
2018
45
Reliability and validity of the Karaduman Chewing Performance Scale in paediatric neuromuscular diseases: A system for classification of chewing disorders. ( 29727486 )
2018
46
Assessing Diaphragm Function in Chest Wall and Neuromuscular Diseases. ( 29779593 )
2018
47
Determining the burden of the family caregivers of people with neuromuscular diseases who use a wheelchair. ( 29901600 )
2018
48
MOVR-NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases. ( 29934516 )
2018
49
Abstracts of the 18th meeting of the European Federation of Autonomic Societies (EFAS) : In conjunction with the 15th International Congress on Neuromuscular Diseases. ( 29934668 )
2018
50
Nonsustained ventricular tachycardia does not affect the prognosis of neuromuscular diseases: A preliminary and retrospective study. ( 29951140 )
2018

Variations for Neuromuscular Disease

ClinVar genetic disease variations for Neuromuscular Disease:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201
2 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh38 Chromosome 12, 109792396: 109792396
3 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500
4 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh38 Chromosome 12, 109792695: 109792695
5 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
6 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
7 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
8 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
9 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
10 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
11 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
12 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
13 TRPV4 NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
14 TRPV4 NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg) single nucleotide variant Pathogenic rs121912637 GRCh38 Chromosome 12, 109784378: 109784378
15 TRPV4 NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys) single nucleotide variant Pathogenic rs267607148 GRCh37 Chromosome 12, 110238444: 110238444
16 TRPV4 NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys) single nucleotide variant Pathogenic rs267607148 GRCh38 Chromosome 12, 109800639: 109800639
17 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh37 Chromosome 12, 110222190: 110222190
18 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh38 Chromosome 12, 109784385: 109784385
19 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
20 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh38 Chromosome 12, 109793560: 109793560
21 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
22 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh38 Chromosome 12, 109803009: 109803009
23 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
24 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
25 TRPV4 NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp) single nucleotide variant Pathogenic rs397514474 GRCh37 Chromosome 12, 110252370: 110252370
26 TRPV4 NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp) single nucleotide variant Pathogenic rs397514474 GRCh38 Chromosome 12, 109814565: 109814565
27 TRPV4 NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile) single nucleotide variant Pathogenic rs387906906 GRCh37 Chromosome 12, 110224632: 110224632
28 TRPV4 NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile) single nucleotide variant Pathogenic rs387906906 GRCh38 Chromosome 12, 109786827: 109786827
29 TRPV4 NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu) single nucleotide variant Pathogenic rs387906907 GRCh37 Chromosome 12, 110238450: 110238450
30 TRPV4 NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu) single nucleotide variant Pathogenic rs387906907 GRCh38 Chromosome 12, 109800645: 109800645
31 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
32 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh38 Chromosome 12, 109808298: 109808298
33 TRPV4 NM_021625.4(TRPV4): c.1772A> G (p.Tyr591Cys) single nucleotide variant Pathogenic rs515726157 GRCh37 Chromosome 12, 110230509: 110230509
34 TRPV4 NM_021625.4(TRPV4): c.1772A> G (p.Tyr591Cys) single nucleotide variant Pathogenic rs515726157 GRCh38 Chromosome 12, 109792704: 109792704
35 TRPV4 NM_021625.4(TRPV4): c.2396_2412del17 (p.Pro799Leufs) deletion Pathogenic rs515726166 GRCh37 Chromosome 12, 110222167: 110222183
36 TRPV4 NM_021625.4(TRPV4): c.2396_2412del17 (p.Pro799Leufs) deletion Pathogenic rs515726166 GRCh38 Chromosome 12, 109784362: 109784378
37 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
38 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
39 MT-TL1 NC_012920.1: m.3275C> T single nucleotide variant Uncertain significance rs1057516057 GRCh37 Chromosome MT, 3275: 3275
40 MT-TL1 NC_012920.1: m.3275C> T single nucleotide variant Uncertain significance rs1057516057 GRCh38 Chromosome MT, 3275: 3275

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 filopodium GO:0030175 9.56 DMD MTM1 TRPV4 UTRN
2 neuromuscular junction GO:0031594 9.55 DES LAMA2 MUSK SYNC UTRN
3 I band GO:0031674 9.51 MTM1 RYR1
4 dystrophin-associated glycoprotein complex GO:0016010 9.49 DMD UTRN
5 SMN-Sm protein complex GO:0034719 9.48 SMN1 SMN2
6 filopodium membrane GO:0031527 9.46 DMD UTRN
7 Z disc GO:0030018 9.43 DES DMD RYR1 SMN1 SMN2 SYNC
8 Gemini of coiled bodies GO:0097504 9.4 SMN1 SMN2
9 SMN complex GO:0032797 9.37 SMN1 SMN2
10 sarcolemma GO:0042383 9.1 DES DMD LAMA2 RYR1 SYNC UTRN
11 plasma membrane GO:0005886 10.21 DES DMD DMPK GAA MPZ MTM1
12 cytoplasm GO:0005737 10.17 DCTN1 DES DMD DMPK GNE HSPB8

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

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.96 GAA GNE
2 vinculin binding GO:0017166 8.62 DMD UTRN

Sources for Neuromuscular Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet