MCID: NRM005
MIFTS: 61

Neuromuscular Disease

Categories: Nephrological diseases, Neuronal diseases

Aliases & Classifications for Neuromuscular Disease

Summaries for Neuromuscular Disease

MedlinePlus : 44 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 Cytoskeleton remodeling Neurofilaments and Agrin Interactions at Neuromuscular Junction. The drugs Imipramine and Pregabalin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, testes and brain, and related phenotypes are no effect and behavior/neurological

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

Wikipedia : 77 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 283)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 33.1 DES GAA RYR1
2 spinal muscular atrophy, type ii 32.6 SMN1 SMN2
3 spinal muscular atrophy, distal, autosomal recessive, 1 32.1 SMN1 SMN2
4 spinal muscular atrophy, type iii 32.0 SMN1 SMN2
5 roussy-levy hereditary areflexic dystasia 31.9 MPZ PMP22
6 spinal muscular atrophy, type iv 31.8 SMN1 SMN2
7 myofibrillar myopathy 31.7 DES DMD HSPB8 SYNC
8 brody myopathy 31.6 DMD RYR1
9 rigid spine muscular dystrophy 1 31.5 DMD GAA LAMA2 RYR1
10 charcot-marie-tooth disease 31.4 DCTN1 HSPB8 MPZ MTM1 NEFL PMP22
11 respiratory failure 30.9 DCTN1 GAA LAMA2
12 muscular atrophy 30.6 SMN1 SMN2 TRPV4
13 foot drop 30.5 MPZ PMP22
14 amyotrophic lateral sclerosis 1 30.3 DCTN1 HSPB8 NEFL SMN1 SMN2
15 proximal spinal muscular atrophy 30.2 DES SMN1 SMN2
16 myopathy 30.0 DES GAA GNE MTM1 RYR1
17 centronuclear myopathy 30.0 DMD MTM1 RYR1
18 atrial standstill 1 29.9 DES DMD GAA
19 muscular dystrophy 29.9 DES DMD DMPK GAA GNE LAMA2
20 muscular dystrophy, becker type 29.9 DMD LAMA2 UTRN
21 myopathy, congenital 29.7 DMD GAA MTM1 RYR1
22 charcot-marie-tooth disease, axonal, type 2e 29.7 MPZ MTM1 NEFL PMP22
23 tooth disease 29.7 HSPB8 MPZ NEFL PMP22 TRPV4
24 ophthalmoplegic neuromuscular disorder with abnormal mitochondria 12.2
25 myasthenia gravis 11.5
26 spinal muscular atrophy, type i 11.4
27 emery-dreifuss muscular dystrophy 1, x-linked 11.4
28 lateral sclerosis 11.3
29 kearns-sayre syndrome 11.3
30 spinal muscular atrophy 11.2
31 myopathy, myofibrillar, 7 11.1
32 thymoma 11.1
33 primary lateral sclerosis, adult, 1 11.0
34 neuronopathy, distal hereditary motor, type viia 11.0
35 neuronopathy, distal hereditary motor, type iia 11.0
36 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.0
37 spinal muscular atrophy with progressive myoclonic epilepsy 11.0
38 minicore myopathy with external ophthalmoplegia 11.0
39 spinal muscular atrophy, distal, x-linked 3 11.0
40 cowchock syndrome 11.0
41 spinal and bulbar muscular atrophy, x-linked 1 11.0
42 myopathy, myofibrillar, 1 11.0
43 neuronopathy, distal hereditary motor, type viib 11.0
44 neuronopathy, distal hereditary motor, type iib 11.0
45 spinal muscular atrophy, distal, autosomal recessive, 4 11.0
46 myopathy, myofibrillar, 6 11.0
47 neuronopathy, distal hereditary motor, type iic 11.0
48 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.0
49 myopathy - thyrotoxic 11.0
50 oculopharyngeal muscular dystrophy 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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 DCTN1 DES DMD DMPK GAA GNE

MGI Mouse Phenotypes related to Neuromuscular Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 DCTN1 DES DMD GAA GNE LAMA2
2 homeostasis/metabolism MP:0005376 10.36 DCTN1 DES DMD DMPK GAA GNE
3 cellular MP:0005384 10.25 DCTN1 DES DMD GAA HSPB8 LAMA2
4 cardiovascular system MP:0005385 10.23 DES DMD DMPK GAA GNE HSPB8
5 muscle MP:0005369 10.19 DCTN1 DES DMD DMPK GAA GNE
6 mortality/aging MP:0010768 10.17 DCTN1 DES DMD GNE HSPB8 LAMA2
7 limbs/digits/tail MP:0005371 9.85 DCTN1 DMD PMP22 RYR1 SMN2 UTRN
8 nervous system MP:0003631 9.85 DCTN1 DMD LAMA2 MPZ MUSK NEFL
9 respiratory system MP:0005388 9.56 DMD HSPB8 MTM1 MUSK RYR1 SMN2
10 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 1019)
# 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
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 60142-96-3 3446
4
Naltrexone Approved, Investigational, Vet_approved Phase 4,Not Applicable 16590-41-3 5360515
5
Ethanol Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 64-17-5 702
6
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1994-09-7, 94-09-7 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 1401-55-4
9
Levomilnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 96847-54-0
10
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
11
Etoricoxib Approved, Investigational Phase 4,Phase 2,Phase 1 202409-33-4 123619
12
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 62-31-7, 51-61-6 681
13
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 38396-39-3, 2180-92-9 2474
14
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 103-90-2 1983
15
Ketoprofen Approved, Vet_approved Phase 4,Phase 2,Phase 1 22071-15-4 3825
16
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 57-27-2 5288826
17
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 378-44-9 9782
18
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
19
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-48-6 2160
20
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 303-53-7 2895
21
Ondansetron Approved Phase 4,Phase 1,Not Applicable 99614-02-5 4595
22
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 6740-88-1 3821
23
Ropivacaine Approved Phase 4,Phase 3,Phase 2,Not Applicable 84057-95-4 175805 71273
24
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
25
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-39-9 4748
26
Capsaicin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 404-86-4 1548943
27
Pirfenidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53179-13-8 40632
28
Ibuprofen Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 15687-27-1 3672
29
Ramipril Approved Phase 4 87333-19-5 5362129
30
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
31
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1744-22-5 5070
32
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
33
Levobupivacaine Approved, Investigational Phase 4,Phase 3,Not Applicable 27262-47-1 92253
34
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 76-42-6 5284603
35
Naloxone Approved, Vet_approved Phase 4,Phase 2 465-65-6 5284596
36
Ziconotide Approved Phase 4,Phase 3,Phase 2 107452-89-1 447451
37
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 13422-55-4
38
Hydroxocobalamin Approved Phase 4,Phase 3,Phase 2,Not Applicable 13422-51-0 15589840 11953898
39
Nabilone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 51022-71-0 5284592
40
Nortriptyline Approved Phase 4,Phase 2,Not Applicable 72-69-5 4543
41
Atorvastatin Approved Phase 4,Phase 2,Not Applicable 134523-00-5 60823
42
Citalopram Approved Phase 4,Phase 3,Not Applicable 59729-33-8 2771
43
leucovorin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
44
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 27203-92-5 33741
45
Acetylcholine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-84-3 187
46
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
47
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 2 10118-90-8 5281021
48
Carbamazepine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 298-46-4 2554
49
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
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 4919)
# 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 Comparison of Two Pain-treatment Techniques After Cesarean Section Unknown status NCT02804126 Phase 4 Bupivacaine;Paracetamol;Metamizol;Ketoprofen;Morphine
13 Evaluation of the Efficacy, Tolerability and Safety of Etoricoxib (Arcoxia) in Patients With Neuropathic Pain Unknown status NCT01264237 Phase 4 Etoricoxib;Placebo
14 Transforaminal Epidural Steroid Injection With Pulsed Radiofrequency for Chronic Lumbosacral Radicular Pain Management Unknown status NCT02930057 Phase 4 Celestone;Control
15 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
16 Postoperative Analgesia in Patients With Microvascular Decompression Unknown status NCT03152955 Phase 4 Ketamine;ondansetron;Sufentanil
17 Percutaneous HydroDiscectomy Compared to TESI for Radiculopathy Unknown status NCT02414698 Phase 4 TESI
18 Preventing Pain After Heart Surgery Unknown status NCT01480765 Phase 4 Pregabalin;Ketamine infusion;Placebo capsules;Placebo infusion
19 Conservative Versus Aggressive Discectomy for Primary Disc Herniation With Radiculopathy Unknown status NCT01204008 Phase 4
20 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
21 Ultrasound-guided Caudal or Interlaminar Corticosteroid Epidural Injection for Sciatica Unknown status NCT02897336 Phase 4
22 Qutenza for Critical Ischaemia in End Stage Renal Failure Unknown status NCT01704339 Phase 4 QUTENZA
23 IV Paracetamol vs IV Morphine vs Placebo in Sciatalgia Unknown status NCT02504996 Phase 4 Paracetamol;morphine;Placebo
24 IVIg for Demyelination in Diabetes Mellitus Unknown status NCT02372149 Phase 4 10% intravenous immunoglobulin (IVIg);0.9% sodium chloride
25 Effects of Pregabalin on Mechanical Hyperalgesia Unknown status NCT00310583 Phase 4 Pregabalin
26 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
27 Pirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
28 Comparison of Intravenous Ibuprofen and Paracetamol in Patients With Sciatica Presented to the Emergency Department Unknown status NCT02777320 Phase 4 paracetamol;Ibuprofen
29 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
30 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
31 Immunogenicity of 1 or 2 Doses of bOPV in Chilean Infants Primed With IPV Vaccine Unknown status NCT01841671 Phase 4
32 Evaluation of the Impact of Training on Outcome Measures in Subjects With Painful Diabetic Neuropathy Unknown status NCT01770964 Phase 4 Pregabalin;placebo
33 Pregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4 Pregabalin;Placebo
34 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
35 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
36 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
37 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
38 Inspiratory Muscle Training in Patients With Autonomic Neuropathic Unknown status NCT00752440 Phase 4
39 Ambulatory Adaptation to Non-Invasive Mechanical Ventilation Completed NCT00698958 Phase 4
40 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
41 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
42 The Effect of α-lipoic Acid Treatment in Patient With Cardiac Autonomic Neuropathy Completed NCT02056366 Phase 4 α-lipoic acid
43 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
44 Intrathecal Bolus Doses of Ziconotide Completed NCT01373983 Phase 4 Ziconotide
45 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
46 Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy Completed NCT00380965 Phase 4 Cesamet™ (nabilone)
47 Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations Completed NCT02260388 Phase 4 Nortriptyline;Duloxetine;Pregabalin;Mexiletine
48 Asian Study on Cilostazol Effectivity in Neuropathies of Diabetes Mellitus Type 2-A Pilot Study in the Philippines Completed NCT01076478 Phase 4 Cilostazol
49 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
50 Escitalopram as a Treatment for Pain in Polyneuropathy Completed NCT00162968 Phase 4 escitalopram

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:

42
Spinal Cord, Testes, Brain, Bone, Skeletal Muscle, Cortex, Skin

Publications for Neuromuscular Disease

Articles related to Neuromuscular Disease:

(show top 50) (show all 1373)
# Title Authors Year
1
Screening and evaluation tools of dysphagia in adults with neuromuscular diseases: a systematic review. ( 30728931 )
2019
2
Respiratory adjuncts to NIV in neuromuscular disease. ( 30408263 )
2019
3
Comparison of Two Cough-Augmentation Techniques Delivered by a Home Ventilator in Subjects With Neuromuscular Disease. ( 30425166 )
2019
4
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 )
2019
5
Editorial announcing PubMed indexing of Degenerative Neurological and Neuromuscular Disease. ( 30643481 )
2019
6
Body composition in patients with primary neuromuscular disease assessed by dual energy X-ray absorptiometry (DXA) and three different bioimpedance devices. ( 30661678 )
2019
7
Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease - A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRI. ( 30714967 )
2019
8
Acute Manifestations of Neuromuscular Disease. ( 30743297 )
2019
9
Different walk aids on gait parameters and kinematic analysis of the pelvis in patients with Adult Neuromuscular Disease. ( 30842398 )
2019
10
Augmenting Cough via Home Ventilators in Subjects With Neuromuscular Disease: Simple, Effective, and Clever. ( 30850554 )
2019
11
Investigating the role of genetic counseling in neuromuscular disease considering life events. ( 30867548 )
2019
12
Trends in incidence, prevalence, and mortality of neuromuscular disease in Ontario, Canada: A population-based retrospective cohort study (2003-2014). ( 30913206 )
2019
13
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity. ( 31051113 )
2019
14
Transition of patients with neuromuscular disease and chronic ventilator-dependent respiratory failure from pediatric to adult pulmonary care. ( 31053356 )
2019
15
Spontaneous Restoration of Nutrition Autonomy in a Case of Intestinal Failure Secondary to a Gastrointestinal Neuromuscular Disease. ( 31074888 )
2019
16
Advances in imaging of brain abnormalities in neuromuscular disease. ( 31105770 )
2019
17
Respiratory Care of Patients With Neuromuscular Disease. ( 31110036 )
2019
18
Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity. ( 30850441 )
2019
19
Through the Skin, To the Nerves: Subcutaneous Immunoglobulin for Neuromuscular Diseases. ( 30688209 )
2019
20
NeuroMuscleDB: a Database of Genes Associated with Muscle Development, Neuromuscular Diseases, Ageing, and Neurodegeneration. ( 30684219 )
2019
21
New therapies for neuromuscular diseases in 2018. ( 30563673 )
2019
22
Cell-Penetrating Peptide Conjugates of Steric Blocking Oligonucleotides as Therapeutics for Neuromuscular Diseases from a Historical Perspective to Current Prospects of Treatment. ( 30307373 )
2019
23
MOVR-NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases. ( 29934516 )
2019
24
'It's a hard conversation to have'. Healthcare professionals' views concerning advance care discussions with young people affected by life-limiting neuromuscular diseases: an interview study. ( 28630131 )
2019
25
Acquired undescended testis and possibly associated testicular torsion in children with cerebral palsy or neuromuscular disease. ( 30219308 )
2018
26
Neuromuscular disease-specific questionnaire to assess quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy. ( 29360221 )
2018
27
Neuromuscular diseases with hypertrophic cardiomyopathy. ( 30393639 )
2018
28
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
29
Malignant hyperthermia: still an issue for neuromuscular diseases? ( 30015672 )
2018
30
Breathing with neuromuscular disease: Does compensatory plasticity in the motor drive to breathe offer a potential therapeutic target in muscular dystrophy? ( 29933052 )
2018
31
Imaging of respiratory muscles in neuromuscular disease: A review. ( 29398294 )
2018
32
The clinical usefulness of a self-administered questionnaire for sleep-disordered breathing in patients with neuromuscular disease. ( 29445539 )
2018
33
The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities. ( 29479275 )
2018
34
Noninvasive Ventilation for Neuromuscular Disease. ( 29779601 )
2018
35
Swallowing and Secretion Management in Neuromuscular Disease. ( 29779602 )
2018
36
Respiratory Diagnostic Tools in Neuromuscular Disease. ( 29914128 )
2018
37
Physical exercise in adults with hereditary neuromuscular disease. ( 29947206 )
2018
38
Measures of respiratory inductance plethysmography (RIP) in children with neuromuscular disease. ( 29999598 )
2018
39
Assessment of Respiratory Muscle Weakness in Subjects With Neuromuscular Disease. ( 30065077 )
2018
40
Respiratory health service utilization of children with neuromuscular disease. ( 30129703 )
2018
41
Patterns of healthcare utilisation for respiratory complications of adults with neuromuscular disease: a population study. ( 30139772 )
2018
42
Teaching Manually Assisted Cough to Caregivers of Children With Neuromuscular Disease. ( 30254045 )
2018
43
Exploiting the heightened phase synchrony in patients with neuromuscular disease for the establishment of efficient motor imagery BCIs. ( 30373619 )
2018
44
Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology - September 5-7, 2017, Ottawa, Canada. ( 30373960 )
2018
45
Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease. ( 30426359 )
2018
46
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
47
Practical Implementation of a Single-Night Split-Titration Protocol With BPAP-ST and AVAPS in Patients With Neuromuscular Disease. ( 30518448 )
2018
48
Improvement of Peak Cough Flow After the Application of a Mechanical In-exsufflator in Patients With Neuromuscular Disease and Pneumonia: A Pilot Study. ( 30613076 )
2018
49
Stress Fracture of the Fifth Metatarsal in Foot Deformity Secondary to Neuromuscular Disease: Experiences of Deformity Correction Treatment-A Report of 3 Cases and Review of the Literature. ( 29172689 )
2018
50
New Cav2 calcium channel gating modifiers with agonist activity and therapeutic potential to treat neuromuscular disease. ( 29246857 )
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 DCTN1 DES NEFL
2 10.56 LAMA2 MUSK UTRN
3 10.43 DMD LAMA2

GO Terms for Neuromuscular Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.77 DCTN1 DMD NEFL SMN1 SMN2
2 Z disc GO:0030018 9.63 DES DMD RYR1 SMN1 SMN2 SYNC
3 filopodium GO:0030175 9.56 DMD MTM1 TRPV4 UTRN
4 I band GO:0031674 9.52 MTM1 RYR1
5 dystrophin-associated glycoprotein complex GO:0016010 9.51 DMD UTRN
6 SMN-Sm protein complex GO:0034719 9.49 SMN1 SMN2
7 filopodium membrane GO:0031527 9.48 DMD UTRN
8 Gemini of coiled bodies GO:0097504 9.46 SMN1 SMN2
9 SMN complex GO:0032797 9.43 SMN1 SMN2
10 sarcolemma GO:0042383 9.43 DES DMD LAMA2 RYR1 SYNC UTRN
11 neurofilament GO:0005883 9.4 DMD NEFL
12 neuromuscular junction GO:0031594 9.1 DES LAMA2 MUSK NEFL SYNC UTRN
13 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 9.61 DMD LAMA2 UTRN
2 cellular calcium ion homeostasis GO:0006874 9.58 DMPK RYR1 TRPV4
3 import into nucleus GO:0051170 9.46 SMN1 SMN2
4 muscle contraction GO:0006936 9.46 DES PABPN1 RYR1 UTRN
5 neuromuscular junction development GO:0007528 9.43 DCTN1 MUSK UTRN
6 DNA-templated transcription, termination GO:0006353 9.37 SMN1 SMN2
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.32 DMD UTRN
8 muscle cell cellular homeostasis GO:0046716 9.13 DMD GAA MTM1
9 intermediate filament organization GO:0045109 8.8 DES MTM1 NEFL

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 DES HSPB8 NEFL SMN1 SMN2 TRPV4
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.37 GAA GNE
3 structural constituent of cytoskeleton GO:0005200 9.33 DES DMD NEFL
4 vinculin binding GO:0017166 8.96 DMD UTRN
5 structural molecule activity GO:0005198 8.8 LAMA2 MPZ NEFL
6 protein binding GO:0005515 10.16 DCTN1 DES DMD DMPK GNE HSPB8

Sources for Neuromuscular Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN