MCID: NRM005
MIFTS: 60

Neuromuscular Disease

Categories: Nephrological diseases, Neuronal diseases

Aliases & Classifications for Neuromuscular Disease

Summaries for Neuromuscular Disease

MedlinePlus : 40 Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include Amyotrophic lateral sclerosis Multiple sclerosis Myasthenia gravis Spinal muscular atrophy Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.

MalaCards based summary : Neuromuscular Disease, also known as neuromuscular diseases, is related to central core disease of muscle and spinal muscular atrophy, type ii, and has symptoms including sleeplessness, vertigo/dizziness and chronic pain. 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 spinal cord, testes and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

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

Wikipedia : 72 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 147)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 32.8 DES GAA RYR1
2 spinal muscular atrophy, type ii 32.3 SMN1 SMN2
3 brody myopathy 31.7 DMD RYR1
4 charcot-marie-tooth disease 30.9 HSPB8 MPZ MTM1 PMP22 TRPV4
5 foot drop 30.6 MPZ PMP22
6 respiratory failure 30.5 DCTN1 GAA LAMA2
7 muscular dystrophy, duchenne type 30.4 DMD LAMA2 UTRN
8 dysphagia 30.4 DES PABPN1
9 muscular dystrophy 30.3 DES DMD LAMA2 PABPN1 UTRN
10 muscular atrophy 30.1 DCTN1 SMN1 SMN2 TRPV4
11 malignant hyperthermia 29.9 DMD RYR1 SCN4A
12 myopathy, congenital 29.9 DMD MTM1 RYR1
13 centronuclear myopathy 29.9 DMD MTM1 RYR1
14 muscular dystrophy, becker type 29.8 DMD LAMA2 UTRN
15 myotonia 29.6 DMD DMPK SCN4A
16 myopathy 27.4 DES DMD DMPK GAA GNE LAMA2
17 ophthalmoplegic neuromuscular disorder with abnormal mitochondria 12.0
18 lateral sclerosis 11.2
19 myasthenia gravis 11.2
20 emery-dreifuss muscular dystrophy 1, x-linked 11.1
21 spinal muscular atrophy, type i 11.1
22 kearns-sayre syndrome 11.1
23 spinal muscular atrophy 11.0
24 extracardiac rhabdomyoma 10.7 DES DMD
25 oculopharyngeal muscular dystrophy 10.6
26 mitochondrial myopathy 10.6
27 native american myopathy 10.6
28 neuronopathy, distal hereditary motor, type va 10.6
29 amyotrophy, monomelic 10.6
30 neuronopathy, distal hereditary motor, type vb 10.6
31 neuromuscular junction disease 10.6
32 atrophic muscular disease 10.6
33 myofibrillar myopathy 10.6
34 hemifacial spasm 10.6
35 o'sullivan-mcleod syndrome 10.6
36 cardioneuromyopathy with hyaline masses and nemaline rods 10.6 DES DMD
37 microcolon 10.6 DES DMD
38 hereditary neuropathy with liability to pressure palsy 10.6 MPZ PMP22
39 charcot-marie-tooth neuropathy type 1 10.6 MPZ PMP22
40 cytoplasmic body myopathy 10.6 DES DMD UTRN
41 charcot-marie-tooth disease, demyelinating, type 1f 10.5 MPZ PMP22
42 congenital hypomyelination neuropathy 10.5 MPZ PMP22
43 oculopharyngodistal myopathy 10.5 GNE PABPN1
44 spinal muscular atrophy, type iv 10.5 SMN1 SMN2
45 charcot-marie-tooth disease, dominant intermediate b 10.5 MTM1 RYR1
46 survival motor neuron spinal muscular atrophy 10.5 SMN1 SMN2
47 juvenile spinal muscular atrophy 10.5 SMN1 SMN2
48 proximal spinal muscular atrophy 10.4 DES SMN1 SMN2
49 cardiomyopathy, dilated, 1b 10.4 DMD LAMA2
50 spinal muscular atrophy, type iii 10.4 SMN1 SMN2

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:


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

MGI Mouse Phenotypes related to Neuromuscular Disease:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 RYR1 SCN4A SMN2 TRPV4 UTRN DCTN1
2 homeostasis/metabolism MP:0005376 10.3 DCTN1 DES DMD DMPK GAA GNE
3 cardiovascular system MP:0005385 10.26 DES DMD DMPK GAA GNE HSPB8
4 cellular MP:0005384 10.23 DCTN1 DES DMD GAA HSPB8 LAMA2
5 growth/size/body region MP:0005378 10.17 DMD GAA GNE LAMA2 MTM1 MUSK
6 mortality/aging MP:0010768 10.1 DMD GNE HSPB8 LAMA2 MPZ MTM1
7 muscle MP:0005369 10.06 UTRN 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 MTM1 MUSK RYR1 SMN2 UTRN DCTN1

Drugs & Therapeutics for Neuromuscular Disease

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

(show top 50) (show all 938)
# 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 148553-50-8 5486971
3
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
4
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
5
Etoricoxib Approved, Investigational Phase 4,Phase 2,Phase 1 202409-33-4 123619
6
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
7
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2 303-53-7 2895
8
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
9
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
10
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
11
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 56-12-2 119
12
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1 58-39-9 4748
13
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
14
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
15
Ramipril Approved Phase 4 87333-19-5 5362129
16
Capsaicin Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 404-86-4 1548943
17
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-24-8 5755
19
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
20
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1744-22-5 5070
21
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
22
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 38396-39-3, 2180-92-9 2474
23
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
24
Levobupivacaine Approved, Investigational Phase 4,Phase 3 27262-47-1 92253
25 Racepinephrine Approved Phase 4 329-65-7
26
Ropivacaine Approved Phase 4,Phase 3,Phase 2 84057-95-4 175805 71273
27
Naloxone Approved, Vet_approved Phase 4,Phase 2 465-65-6 5284596
28
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2 76-42-6 5284603
29
Hydroxocobalamin Approved Phase 4,Phase 3,Phase 2 13422-51-0 5460373 44475014 11953898
30
Nabilone Approved, Investigational Phase 4,Phase 3,Phase 2 51022-71-0 5284592
31
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
32
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
33
Citalopram Approved Phase 4,Phase 3 59729-33-8 2771
34
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
35
Acetylcholine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 51-84-3 187
36
Menthol Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 2216-51-5 16666
37
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
38
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 2 10118-90-8 5281021
39
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 137-58-6 3676
40
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 124-94-7 31307
41
Carbamazepine Approved, Investigational Phase 4,Phase 2,Phase 3 298-46-4 2554
42
Ibuprofen Approved Phase 4,Phase 2,Phase 3,Phase 1 15687-27-1 3672
43
Oxcarbazepine Approved Phase 4 28721-07-5 34312
44
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 2 15307-86-5 3033
45
Zinc Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 7440-66-6 32051 23994
46
Iron Approved Phase 4,Phase 3,Phase 2 7439-89-6 23925
47
Azathioprine Approved Phase 4,Phase 3 446-86-6 2265
48
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2 1972-08-3 16078 2978
49
Methylphenidate Approved, Investigational Phase 4,Phase 2,Phase 3 20748-11-2, 113-45-1 4158
50
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-02-2 5743

Interventional clinical trials:

(show top 50) (show all 4182)

# 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 Bi-Axial Rotating Magnetic Field Therapy in Refractory Neuropathic Foot Pain Secondary to Diabetic Peripheral Neuropathy Unknown status NCT00123136 Phase 4
7 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
8 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
9 Evaluation of the Efficacy, Tolerability and Safety of Etoricoxib (Arcoxia) in Patients With Neuropathic Pain Unknown status NCT01264237 Phase 4 Etoricoxib;Placebo
10 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
11 Conservative Versus Aggressive Discectomy for Primary Disc Herniation With Radiculopathy Unknown status NCT01204008 Phase 4
12 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
13 IV Paracetamol vs IV Morphine vs Placebo in Sciatalgia Unknown status NCT02504996 Phase 4 Paracetamol;morphine;Placebo
14 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
15 Preventing Pain After Heart Surgery Unknown status NCT01480765 Phase 4 Pregabalin;Ketamine infusion;Placebo capsules;Placebo infusion
16 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
17 Qutenza for Critical Ischaemia in End Stage Renal Failure Unknown status NCT01704339 Phase 4 QUTENZA
18 Immunogenicity of 1 or 2 Doses of bOPV in Chilean Infants Primed With IPV Vaccine Unknown status NCT01841671 Phase 4
19 A Phase IV Trial of Neuroprotection With ACTH in Acute Optic Neuritis Unknown status NCT01838174 Phase 4 ACTHAR Gel (ACTH);IV steroids with oral taper
20 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
21 Evaluation of the Impact of Training on Outcome Measures in Subjects With Painful Diabetic Neuropathy Unknown status NCT01770964 Phase 4 Pregabalin;placebo
22 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
23 Pregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4 Pregabalin;Placebo
24 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
25 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
26 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
27 Effects of Pregabalin on Mechanical Hyperalgesia Unknown status NCT00310583 Phase 4 Pregabalin
28 Inspiratory Muscle Training in Patients With Autonomic Neuropathic Unknown status NCT00752440 Phase 4
29 Ambulatory Adaptation to Non-Invasive Mechanical Ventilation Completed NCT00698958 Phase 4
30 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
31 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
32 The Effect of α-lipoic Acid Treatment in Patient With Cardiac Autonomic Neuropathy Completed NCT02056366 Phase 4 α-lipoic acid
33 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
34 Intrathecal Bolus Doses of Ziconotide Completed NCT01373983 Phase 4 Ziconotide
35 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
36 Autonomic Nervous System Dysfunction and Peripheral Neuropathy in a Cohort of Asymptomatic Juvenile Diabetic Patients (Type I): A Case-Controlled Study Completed NCT00466778 Phase 4
37 Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy Completed NCT00380965 Phase 4 Cesamet™ (nabilone)
38 Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations Completed NCT02260388 Phase 4 Nortriptyline;Duloxetine;Pregabalin;Mexiletine
39 Asian Study on Cilostazol Effectivity in Neuropathies of Diabetes Mellitus Type 2-A Pilot Study in the Philippines Completed NCT01076478 Phase 4 Cilostazol
40 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
41 Escitalopram as a Treatment for Pain in Polyneuropathy Completed NCT00162968 Phase 4 escitalopram
42 Arthroplasty Versus Fusion in Anterior Cervical Surgery: Prospective Study of the Impact on the Adjacent Level Completed NCT00554528 Phase 4
43 Prophylactic Administration of Vitamin C in Wrist Fractures Completed NCT00296868 Phase 4 ascorbic acid (vitamin C) versus placebo
44 Study of Metanx® in Subjects With Type 2 Diabetic Peripheral Neuropathy (DPN) Completed NCT00726713 Phase 4
45 A Study to Compare Safety and Efficacy of Tramadol Hydrochloride/Acetaminophen With Gabapentin in Participants With Diabetic Neuropathy Completed NCT00634543 Phase 4 Tramadol hydrochloride/ Acetaminophen;Gabapentin
46 Effect of Pulsing Electrical Fields on Lower Extremity Diabetic Neuropathy: A Pilot, Open-Label Study Completed NCT00614341 Phase 4
47 A Randomized Double-Blind Study Testing the Effects of Pregabalin on Diabetic Neuropathy Completed NCT00573261 Phase 4 Pregabalin;Placebo
48 Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Diabetic Peripheral Neuropathy Completed NCT00380913 Phase 4 Cesamet™ (nabilone)
49 Safety of Pregabalin in the Treatment of Pain Due to Diabetic Peripheral Neuropathy Completed NCT00159731 Phase 4 Pregabalin
50 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration

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:

38
Spinal Cord, Testes, Brain, Breast, Bone, Heart, Cortex

Publications for Neuromuscular Disease

Articles related to Neuromuscular Disease:

(show top 50) (show all 661)
# Title Authors Year
1
Neuromuscular disease-specific questionnaire to assess quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy. ( 29360221 )
2018
2
Case of paediatric neuromuscular disease with a surprising clinical outcome: time to challenge the dogma? ( 29382800 )
2018
3
New Cav2 calcium channel gating modifiers with agonist activity and therapeutic potential to treat neuromuscular disease. ( 29246857 )
2018
4
The clinical usefulness of a self-administered questionnaire for sleep-disordered breathing in patients with neuromuscular disease. ( 29445539 )
2018
5
Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases. ( 29400682 )
2018
6
Reflections on 50 Years of Neuroscience Nursing: Movement Disorders, Neuromuscular Disease, and Multiple Sclerosis. ( 29266080 )
2018
7
Stability and relative validity of the Neuromuscular Disease Impact Profile (NMDIP). ( 28490360 )
2017
8
Noninvasive Respiratory Management of Patients With Neuromuscular Disease. ( 28971036 )
2017
9
Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease. ( 28448001 )
2017
10
Neuromuscular Disease: Cardiac Manifestations and Sudden Death Risk. ( 29173414 )
2017
11
Imaging in Neuromuscular Disease 2017: First International Conference on Imaging in Neuromuscular Disease, 19th - 21st November 2017, Berlin, Germany. ( 29103047 )
2017
12
Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans. ( 29145886 )
2017
13
A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland. ( 27927941 )
2017
14
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease. ( 28379182 )
2017
15
Respiratory Implications of Pediatric Neuromuscular Disease. ( 28546380 )
2017
16
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. ( 28078312 )
2017
17
Successful Extubation After Weaning Failure by Noninvasive Ventilation in Patients With Neuromuscular Disease: Case Series. ( 28758083 )
2017
18
The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients. ( 28800337 )
2017
19
Respiratory complications, management and treatments for neuromuscular disease in children. ( 28338488 )
2017
20
The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version. ( 28164330 )
2017
21
Invasive versus non-invasive ventilation for acute respiratory failure in neuromuscular disease and chest wall disorders. ( 29199768 )
2017
22
Neuromuscular disease: Tadalafil fails to halt the progression of Duchenne muscular dystrophy. ( 29064468 )
2017
23
Cardiac Manifestations of Neuromuscular Disease. ( 28601412 )
2017
24
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 )
2017
25
The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. ( 28218388 )
2017
26
Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. ( 29214567 )
2017
27
Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease. ( 28178525 )
2017
28
Use of Mechanical Insufflation-Exsufflation Devices for Airway Clearance in Subjects With Neuromuscular Disease. ( 28108686 )
2017
29
Imaging of respiratory muscles in neuromuscular disease: A review. ( 29398294 )
2017
30
Letter to the Editor: Successful Extubation After Weaning Failure by Noninvasive Ventilation in Patients With Neuromuscular Disease - Do We Appreciate the Bigger Picture? ( 29201832 )
2017
31
Sleep-disordered breathing in patients with neuromuscular disease. ( 28702830 )
2017
32
Sleep-Disordered Breathing in Neuromuscular Disease: Diagnostic and Therapeutic Challenges. ( 28372949 )
2017
33
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. ( 28864117 )
2017
34
An Overview of Cardiac Management in Neuromuscular Disease. ( 27347224 )
2016
35
Role of noninvasive ventilation in perioperative patients with neuromuscular disease: a clinical case. ( 26768933 )
2016
36
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. ( 27357428 )
2016
37
Registry Participation in Neuromuscular Disease. ( 27922505 )
2016
38
Neuromuscular Disease. ( 26966793 )
2016
39
Neuromuscular disease: Methotrexate has no steroid-sparing effect in patients with generalized myasthenia gravis. ( 27364745 )
2016
40
One clinic's experience with carbon fiber orthoses in neuromuscular disease. ( 27356926 )
2016
41
Response to Noninvasive Pco2 Monitoring During Sleep for Patients with Neuromuscular Disease. ( 26745219 )
2016
42
Vital Capacity Impairment due to Neuromuscular Disease and its Correlation with Diaphragmatic Ultrasound: A Preliminary Study. ( 26620221 )
2016
43
Muscle Study Group Annual Meeting, Models of Neuromuscular Disease Across the Lifespan, Snowbird Ski & Summer Resort, Snowbird, UT, September 24-26, 2016. ( 27588585 )
2016
44
The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status. ( 26968877 )
2016
45
Relationship between disability and life satisfaction in adult patients with neuromuscular disease. ( 27677022 )
2016
46
Prevalence of Vitamin D Deficiency in Spring and Summer Months in Central Pennsylvania Neuromuscular Clinic: A Study Complementary to the Pilot Study Published in Journal of Clinical Neuromuscular Disease in June 2015 for Fall and Winter Months. ( 27224439 )
2016
47
Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy. ( 26670295 )
2016
48
Skeletal muscle imaging in neuromuscular disease. ( 27612670 )
2016
49
Neuromuscular disease: Mitochondrial dysfunction could precipitate motor neuron loss in spinal muscular atrophy. ( 27562548 )
2016
50
Neuromuscular disease: Benefit of thymectomy in myasthenia gravis. ( 27562551 )
2016

Variations for Neuromuscular Disease

ClinVar genetic disease variations for Neuromuscular Disease:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.2396C> G (p.Pro799Arg) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
2 TRPV4 NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys) single nucleotide variant Pathogenic rs267607148 GRCh37 Chromosome 12, 110238444: 110238444
3 TRPV4 NM_021625.4(TRPV4): c.2389G> A (p.Glu797Lys) single nucleotide variant Pathogenic rs267607149 GRCh37 Chromosome 12, 110222190: 110222190
4 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
5 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
6 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
7 TRPV4 NM_021625.4(TRPV4): c.232G> T (p.Gly78Trp) single nucleotide variant Pathogenic rs397514474 GRCh37 Chromosome 12, 110252370: 110252370
8 TRPV4 NM_021625.4(TRPV4): c.2219C> T (p.Thr740Ile) single nucleotide variant Pathogenic rs387906906 GRCh37 Chromosome 12, 110224632: 110224632
9 TRPV4 NM_021625.4(TRPV4): c.826A> G (p.Lys276Glu) single nucleotide variant Pathogenic rs387906907 GRCh37 Chromosome 12, 110238450: 110238450
10 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
11 TRPV4 NM_021625.4(TRPV4): c.1772A> G (p.Tyr591Cys) single nucleotide variant Pathogenic rs515726157 GRCh37 Chromosome 12, 110230509: 110230509
12 TRPV4 NM_021625.4(TRPV4): c.2396_2412del17 (p.Pro799Leufs) deletion Pathogenic rs515726166 GRCh37 Chromosome 12, 110222167: 110222183
13 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201
14 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500
15 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
16 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
17 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
18 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471

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:

# Name GO ID Score Top Affiliating Genes
1 filopodium GO:0030175 9.56 DMD MTM1 TRPV4 UTRN
2 SMN-Sm protein complex GO:0034719 9.46 SMN1 SMN2
3 neuromuscular junction GO:0031594 9.46 DES MUSK SYNC UTRN
4 filopodium membrane GO:0031527 9.43 DMD UTRN
5 dystrophin-associated glycoprotein complex GO:0016010 9.4 DMD UTRN
6 SMN complex GO:0032797 9.37 SMN1 SMN2
7 Z disc GO:0030018 9.35 DES DMD SMN1 SMN2 SYNC
8 Gemini of coiled bodies GO:0097504 9.32 SMN1 SMN2
9 sarcolemma GO:0042383 9.02 DES DMD LAMA2 SYNC UTRN
10 plasma membrane GO:0005886 10.26 DES DMD DMPK GAA MPZ MTM1

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 9.54 DMD LAMA2 UTRN
2 cellular calcium ion homeostasis GO:0006874 9.5 DMPK RYR1 TRPV4
3 intermediate filament organization GO:0045109 9.4 DES MTM1
4 DNA-templated transcription, termination GO:0006353 9.26 SMN1 SMN2
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.16 DMD UTRN
6 muscle cell cellular homeostasis GO:0046716 9.13 DMD GAA MTM1
7 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 vinculin binding GO:0017166 8.62 DMD UTRN

Sources for Neuromuscular Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....