MCID: NRM005
MIFTS: 55

Neuromuscular Disease

Categories: Nephrological diseases, Neuronal diseases

Aliases & Classifications for Neuromuscular Disease

Summaries for Neuromuscular Disease

MedlinePlus : 41 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 and myasthenia gravis, and has symptoms including athetosis, back pain and headache. 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 133)
id Related Disease Score Top Affiliating Genes
1 central core disease 11.4
2 myasthenia gravis 11.1
3 lateral sclerosis 11.0
4 kearns-sayre syndrome 11.0
5 extrasystoles short stature hyperpigmentation microcephaly 10.9 DES DMD
6 spinal muscular atrophy 10.9
7 emery-dreifuss muscular dystrophy 1, x-linked 10.9
8 hereditary proximal myopathy with early respiratory failure 10.8 MPZ PMP22
9 conotruncal heart malformations 10.8 MPZ PMP22
10 hemiplegia alterans 10.8 MPZ PMP22
11 d-minus hemolytic uremic syndrome 10.8 DES DMD UTRN
12 congestive heart failure 10.8 MPZ PMP22
13 charcot-marie-tooth neuropathy type 4j 10.8 MPZ PMP22
14 major affective disorder 4 10.7 DMD RYR1
15 mental retardation, x-linked, syndromic 34 10.7 MPZ PMP22
16 stargardt disease, autosomal recessive 10.7 SMN1 SMN2
17 corneal dystrophy, subepithelial mucinous 10.7 GNE PABPN1
18 charcot-marie-tooth disease, type 1b 10.7 MPZ PMP22
19 lethal congenital contracture syndrome 5 10.7 MTM1 RYR1
20 pain disorder 10.7 SMN1 SMN2
21 retinitis pigmentosa with or without skeletal anomalies 10.7 SMN1 SMN2
22 pseudoachondroplastic dysplasia 2 10.6 DES SMN1 SMN2
23 pituitary adenoma, growth hormone-secreting 10.6 MPZ PMP22 TRPV4
24 autosomal recessive nonsyndromic deafness 3 10.6 DMD LAMA2
25 spinal muscular atrophy-3 10.6 SMN1 SMN2
26 porencephaly 10.6 MUSK PABPN1 RYR1
27 chromosome 3q13.31 deletion syndrome 10.6 DMPK SCN4A
28 muscular dystrophy, congenital, 1b 10.6 DMD LAMA2
29 hereditary angioedema 10.6 DMD MTM1 RYR1
30 spinal cord oligodendroglioma 10.6 SMN1 SMN2 TRPV4
31 charcot-marie-tooth neuropathy x 10.6 MPZ PMP22
32 erythema elevatum diutinum 10.5 SMN1 SMN2
33 neuronopathy, distal hereditary motor, type vb 10.5
34 neuropathy, distal hereditary motor, type va 10.5
35 native american myopathy 10.5
36 oculopharyngeal muscular dystrophy 10.5
37 brody myopathy 10.5
38 amyotrophy, monomelic 10.5
39 charcot-marie-tooth disease 10.5
40 neuromuscular junction disease 10.5
41 atrophic muscular disease 10.5
42 mitochondrial disorders 10.5
43 benign focal amyotrophy 10.5
44 hemifacial spasm 10.5
45 o'sullivan-mcleod syndrome 10.5
46 scn1b-related generalized epilepsy with febrile seizures plus 10.5 DMD UTRN
47 craniofrontonasal dysplasia 10.5 DMD LAMA2 UTRN
48 cylindrical spirals myopathy 10.4 DMD RYR1 SCN4A
49 usher syndrome 10.4 DES DMD RYR1
50 complete cryptophthalmia 10.4 MUSK SCN4A

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:


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

MGI Mouse Phenotypes related to Neuromuscular Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 MUSK PMP22 RYR1 SCN4A SMN2 TRPV4
2 homeostasis/metabolism MP:0005376 10.25 DCTN1 DES DMD DMPK GAA GNE
3 cardiovascular system MP:0005385 10.23 SMN2 SYNC TRPV4 UTRN DES DMD
4 cellular MP:0005384 10.21 DCTN1 DES DMD GAA HSPB8 LAMA2
5 growth/size/body region MP:0005378 10.14 DMD GAA GNE LAMA2 MTM1 MUSK
6 mortality/aging MP:0010768 10.1 DCTN1 DES DMD GNE HSPB8 LAMA2
7 muscle MP:0005369 10.06 SYNC TRPV4 UTRN DES DMD DMPK
8 hearing/vestibular/ear MP:0005377 9.85 DMD LAMA2 PMP22 SCN4A SMN2 TRPV4
9 respiratory system MP:0005388 9.61 DMD HSPB8 MTM1 MUSK RYR1 SCN4A
10 skeleton MP:0005390 9.28 LAMA2 MTM1 MUSK RYR1 SMN2 UTRN

Drugs & Therapeutics for Neuromuscular Disease

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

(show top 50) (show all 928)
id 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 Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
4
Rocuronium Approved Phase 4,Phase 1 119302-91-9, 143558-00-3 441290
5
Etoricoxib Approved, Investigational Phase 4,Phase 2,Phase 1 202409-33-4 123619
6
Milnacipran Approved Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
7
Succinylcholine Approved Phase 4,Phase 3,Phase 2 306-40-1 5314
8
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
9
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
10
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
14
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
15
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2 303-53-7 2895
16
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1744-22-5 5070
17
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
18
Ramipril Approved Phase 4 87333-19-5 5362129
19
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
20
Capsaicin Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 404-86-4 1548943
21
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
22
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
23
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1 58-39-9 4748
24
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 83-43-2 6741
25
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-24-8 5755
26
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
27
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
28
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
29
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2180-92-9, 38396-39-3 2474
30
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
31
Levobupivacaine Approved Phase 4,Phase 3 27262-47-1 92253
32 Racepinephrine Approved Phase 4
33
Ropivacaine Approved Phase 4,Phase 3,Phase 2 84057-95-4 71273 175805
34
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2 76-42-6 5284603
35
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3 13422-51-0 11953898 5460373 44475014
36
Nabilone Approved, Investigational Phase 4,Phase 3,Phase 2 51022-71-0 5284592
37
Citalopram Approved Phase 4,Phase 3 59729-33-8 2771
38
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
39
Menthol Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 2216-51-5 16666
40
Acetylcholine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 51-84-3 187
41
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
42
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
43
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
44
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 2 10118-90-8 5281021
45
Carbamazepine Approved, Investigational Phase 4,Phase 2,Phase 3 298-46-4 2554
46
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 137-58-6 3676
47
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 124-94-7 31307
48
Methylphenidate Approved, Investigational Phase 4,Phase 2,Phase 3 113-45-1 4158
49
Oxcarbazepine Approved Phase 4 28721-07-5 34312
50
Ibuprofen Approved Phase 4,Phase 2,Phase 3,Phase 1 15687-27-1 3672

Interventional clinical trials:

(show top 50) (show all 4093)

id 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 Laparoscopic Bariatric Surgery: Impact of Deep Neuromuscular Block on Surgical Conditions Unknown status NCT02118844 Phase 4 rocuronium
7 Bi-Axial Rotating Magnetic Field Therapy in Refractory Neuropathic Foot Pain Secondary to Diabetic Peripheral Neuropathy Unknown status NCT00123136 Phase 4
8 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
9 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
10 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Unknown status NCT01941628 Phase 4 Rocuronium;Succinylcholine
11 Deep Neuromuscular Blockade During Robotic Radical Prostatectomy Unknown status NCT02513693 Phase 4 Standard neuromuscular blockade;Deep neuromuscular blockade
12 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
13 Evaluation of the Efficacy, Tolerability and Safety of Etoricoxib (Arcoxia) in Patients With Neuropathic Pain Unknown status NCT01264237 Phase 4 Etoricoxib;Placebo
14 Deep vs Moderate Neuromuscular Blockade With Rocuronium in Patients Undergoing Endolaryngeal Procedures Unknown status NCT02451202 Phase 4 Sugammadex;Rocuronium
15 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
16 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Unknown status NCT00815282 Phase 4 Human papilloma virus vaccine (cervarix)
17 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
18 Conservative Versus Aggressive Discectomy for Primary Disc Herniation With Radiculopathy Unknown status NCT01204008 Phase 4
19 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
20 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
21 Preventing Pain After Heart Surgery Unknown status NCT01480765 Phase 4 Pregabalin;Ketamine infusion;Placebo capsules;Placebo infusion
22 Qutenza for Critical Ischaemia in End Stage Renal Failure Unknown status NCT01704339 Phase 4 QUTENZA
23 Effects of Pregabalin on Mechanical Hyperalgesia Unknown status NCT00310583 Phase 4 Pregabalin
24 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
25 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
26 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
27 Inspiratory Muscle Training in Patients With Autonomic Neuropathic Unknown status NCT00752440 Phase 4
28 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
29 Evaluation of the Impact of Training on Outcome Measures in Subjects With Painful Diabetic Neuropathy Unknown status NCT01770964 Phase 4 Pregabalin;placebo
30 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
31 Immunogenicity of 1 or 2 Doses of bOPV in Chilean Infants Primed With IPV Vaccine Unknown status NCT01841671 Phase 4
32 Pregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4 Pregabalin;Placebo
33 IV Paracetamol vs IV Morphine vs Placebo in Sciatalgia Unknown status NCT02504996 Phase 4 Paracetamol;morphine;Placebo
34 Ambulatory Adaptation to Non-Invasive Mechanical Ventilation Completed NCT00698958 Phase 4
35 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
36 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
37 The Effect of α-lipoic Acid Treatment in Patient With Cardiac Autonomic Neuropathy Completed NCT02056366 Phase 4 α-lipoic acid
38 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
39 Intrathecal Bolus Doses of Ziconotide Completed NCT01373983 Phase 4 Ziconotide
40 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
41 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
42 Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy Completed NCT00380965 Phase 4 Cesamet™ (nabilone)
43 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
44 Asian Study on Cilostazol Effectivity in Neuropathies of Diabetes Mellitus Type 2-A Pilot Study in the Philippines Completed NCT01076478 Phase 4 Cilostazol
45 Escitalopram as a Treatment for Pain in Polyneuropathy Completed NCT00162968 Phase 4 escitalopram
46 Arthroplasty Versus Fusion in Anterior Cervical Surgery: Prospective Study of the Impact on the Adjacent Level Completed NCT00554528 Phase 4
47 Prophylactic Administration of Vitamin C in Wrist Fractures Completed NCT00296868 Phase 4 ascorbic acid (vitamin C) versus placebo
48 Effect of Neuromuscular Blockade on Operating Conditions and Overall Satisfaction During Spinal Surgery Completed NCT02724111 Phase 4 sufficient dose of rocuronium;sugammadex 10 min after position change
49 Effect of Pulsing Electrical Fields on Lower Extremity Diabetic Neuropathy: A Pilot, Open-Label Study Completed NCT00614341 Phase 4
50 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

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:

39
Spinal Cord, Testes, Brain, Breast, Bone, Heart, Cortex

Publications for Neuromuscular Disease

Articles related to Neuromuscular Disease:

(show top 50) (show all 645)
id Title Authors Year
1
Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease. ( 28448001 )
2017
2
The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version. ( 28164330 )
2017
3
Use of Mechanical Insufflation-Exsufflation Devices for Airway Clearance in Subjects With Neuromuscular Disease. ( 28108686 )
2017
4
Cardiac Manifestations of Neuromuscular Disease. ( 28601412 )
2017
5
Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease. ( 28178525 )
2017
6
Successful Extubation After Weaning Failure by Noninvasive Ventilation in Patients With Neuromuscular Disease: Case Series. ( 28758083 )
2017
7
Respiratory Implications of Pediatric Neuromuscular Disease. ( 28546380 )
2017
8
The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. ( 28218388 )
2017
9
A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland. ( 27927941 )
2017
10
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease. ( 28379182 )
2017
11
Stability and relative validity of the Neuromuscular Disease Impact Profile (NMDIP). ( 28490360 )
2017
12
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. ( 28078312 )
2017
13
Sleep-disordered breathing in patients with neuromuscular disease. ( 28702830 )
2017
14
The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients. ( 28800337 )
2017
15
Respiratory complications, management and treatments for neuromuscular disease in children. ( 28338488 )
2017
16
Sleep-Disordered Breathing in Neuromuscular Disease: Diagnostic and Therapeutic Challenges. ( 28372949 )
2017
17
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. ( 28864117 )
2017
18
Muscle Study Group Annual Meeting, Models of Neuromuscular Disease Across the Lifespan, Snowbird Ski & Summer Resort, Snowbird, UT, September 24-26, 2016. ( 27588585 )
2016
19
Mouthpiece ventilation and complementary techniques in patients with neuromuscular disease: A brief clinical review and update. ( 27932555 )
2016
20
Clinical course of growth in patients with congenital neuromuscular disease in a single multidisciplinary neuromuscular clinic. ( 26966796 )
2016
21
Noninvasive Assessment of Neuromuscular Disease in Dogs: Use of the 6-minute Walk Test to Assess Submaximal Exercise Tolerance in Dogs with Centronuclear Myopathy. ( 27012153 )
2016
22
Skeletal muscle imaging in neuromuscular disease. ( 27612670 )
2016
23
The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status. ( 26968877 )
2016
24
Same-day physical therapy consults in an outpatient neuromuscular disease physician clinic. ( 27757040 )
2016
25
Neuromuscular Disease. ( 26966793 )
2016
26
Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease. ( 27536002 )
2016
27
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
28
Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy. ( 26670295 )
2016
29
Role of noninvasive ventilation in perioperative patients with neuromuscular disease: a clinical case. ( 26768933 )
2016
30
One clinic's experience with carbon fiber orthoses in neuromuscular disease. ( 27356926 )
2016
31
Medical School Hotline: Medical Student Insights on Pediatric Neuromuscular Disease in Hawai'i. ( 27099807 )
2016
32
Response to Noninvasive Pco2 Monitoring During Sleep for Patients with Neuromuscular Disease. ( 26745219 )
2016
33
Respiratory failure because of neuromuscular disease. ( 27427990 )
2016
34
The utility of genetic testing in neuromuscular disease: A Consensus Statement From the AANEM on the Clinical Utility of Genetic Testing in Diagnosis of Neuromuscular Disease. ( 27554703 )
2016
35
Relationship between disability and life satisfaction in adult patients with neuromuscular disease. ( 27677022 )
2016
36
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. ( 27357428 )
2016
37
Neuromuscular Disease inA the Neurointensive Care Unit. ( 27521200 )
2016
38
Polyglutamine androgen receptor-mediated neuromuscular disease. ( 27188284 )
2016
39
Neuromuscular disease: Benefit of thymectomy in myasthenia gravis. ( 27562551 )
2016
40
Neuromuscular disease: Genome editing shows promise in an in vivo model of Duchenne muscular dystrophy. ( 26782331 )
2016
41
Neuromuscular disease: Antisense oligonucleotide shows promise in SMA. ( 26915727 )
2016
42
Exploring quality of life in people with slowly-progressive neuromuscular disease. ( 27342814 )
2016
43
Vital Capacity Impairment due to Neuromuscular Disease and its Correlation with Diaphragmatic Ultrasound: A Preliminary Study. ( 26620221 )
2016
44
Home monitoring of daytime mouthpiece ventilation effectiveness in patients with neuromuscular disease. ( 26703922 )
2016
45
Neuromuscular Disease Models and Analysis. ( 27150099 )
2016
46
An Overview of Cardiac Management in Neuromuscular Disease. ( 27347224 )
2016
47
Neuromuscular disease: Mitochondrial dysfunction could precipitate motor neuron loss in spinal muscular atrophy. ( 27562548 )
2016
48
Registry Participation in Neuromuscular Disease. ( 27922505 )
2016
49
Neuromuscular disease: Methotrexate has no steroid-sparing effect in patients with generalized myasthenia gravis. ( 27364745 )
2016
50
Management of Spinal Deformity in Adult Patients With Neuromuscular Disease. ( 27471900 )
2016

Variations for Neuromuscular Disease

ClinVar genetic disease variations for Neuromuscular Disease:

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

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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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....