MCID: NRM005
MIFTS: 56

Neuromuscular Disease malady

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 hypertonia and central core disease, 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 Agrin Interactions at Neuromuscular Junction and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. The drugs Imipramine and Pregabalin have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are behavior/neurological and homeostasis/metabolism

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

Wikipedia : 71 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 132)
id Related Disease Score Top Affiliating Genes
1 hypertonia 29.6 MPZ PMP22
2 central core disease 11.5
3 myasthenia gravis 11.1
4 lateral sclerosis 11.0
5 kearns-sayre syndrome 11.0
6 spinal muscular atrophy 10.9
7 emery-dreifuss muscular dystrophy 1, x-linked 10.8
8 neuronopathy, distal hereditary motor, type vb 10.5
9 native american myopathy 10.5
10 oculopharyngeal muscular dystrophy 10.5
11 brody myopathy 10.5
12 neuropathy, distal hereditary motor, type va 10.5
13 amyotrophy, monomelic 10.5
14 charcot-marie-tooth disease 10.5
15 neuromuscular junction disease 10.5
16 atrophic muscular disease 10.5
17 mitochondrial disorders 10.5
18 benign focal amyotrophy 10.5
19 hemifacial spasm 10.5
20 o'sullivan-mcleod syndrome 10.5
21 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.4 DMD UTRN
22 chd7-related isolated gonadotropin-releasing hormone deficiency 10.4 HSPB8 MPZ
23 chiari malformation type 3 10.4 HSPB8 MPZ
24 hereditary type 2 neuropathy 10.3 MPZ PMP22
25 autosomal recessive nonsyndromic deafness 47 10.3 DMD LAMA2
26 craniorachischisis 10.3 MPZ PMP22
27 chrna1-related congenital myasthenic syndrome 10.3 MPZ PMP22
28 surfactant metabolism dysfunction, pulmonary, 2 10.3 MPZ PMP22
29 microcephaly and chorioretinopathy 2 10.3 DMD EMD RYR1
30 cardiomyopathy, dilated, 1aa, with or without lvnc 10.3 DMD LAMA2
31 lipodystrophy, familial partial, 2 10.3 DMD EMD LAMA2
32 thrombocytopenia, x-linked 10.3 DMD LAMA2 UTRN
33 muscular dystrophy, limb-girdle, type 1b 10.3 DMD LAMA2 UTRN
34 pneumonic plague 10.3 MPZ PMP22
35 muscular dystrophy, rigid spine, 1 10.2 DMD GAA LAMA2
36 corneal dystrophy, posterior amorphous 10.2 GNE PABPN1
37 sudden infant death with dysgenesis of the testes syndrome 10.2 DMD LAMA2
38 lethal congenital contracture syndrome 5 10.2 MTM1 RYR1
39 dejerine-sottas disease 10.2 MPZ PMP22 TRPV4
40 posterior polar cataract 10.2 SMN1 SMN2
41 shigellosis 10.2 SMN1 SMN2
42 pituitary adenoma, prolactin-secreting 10.2 MPZ PMP22 TRPV4
43 arthrogryposis, distal, type 8 10.2 EMD RYR1
44 parametrium malignant neoplasm 10.2 DMD EMD LAMA2
45 uterine ligament serous adenocarcinoma 10.2 MPZ MUSK PMP22
46 classic galactosemia and clinical variant galactosemia 10.2 MPZ PMP22
47 pigmented nodular adrenocortical disease, primary, 3 10.2 SMN1 SMN2
48 thrombophilia due to antithrombin iii deficiency 10.2 HSPB8 MPZ PMP22 TRPV4
49 wernicke-korsakoff syndrome 10.2 HSPB8 MPZ PMP22 TRPV4
50 adams-oliver syndrome 2 10.2 DMD MTM1 RYR1

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 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 DCTN1 DMD EMD GAA GNE LAMA2
2 homeostasis/metabolism MP:0005376 10.27 DCTN1 DMD DMPK GAA GNE HSPB8
3 cardiovascular system MP:0005385 10.26 DMD DMPK EMD GAA GNE HSPB8
4 cellular MP:0005384 10.23 DCTN1 DMD EMD GAA HSPB8 LAMA2
5 growth/size/body region MP:0005378 10.17 DMD GAA GNE LAMA2 SCN4A SMN2
6 mortality/aging MP:0010768 10.07 PMP22 RYR1 SCN4A SMN2 UTRN DCTN1
7 muscle MP:0005369 10.06 GAA GNE HSPB8 LAMA2 MTM1 MUSK
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 1131)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imipramine Approved Phase 4,Phase 3 50-49-7 3696
2
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
3
Etoricoxib Approved, Investigational Phase 4,Phase 2,Phase 1 202409-33-4 123619
4
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
5
Milnacipran Approved Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
6
Rocuronium Approved Phase 4,Phase 3,Phase 2,Phase 1 119302-91-9, 143558-00-3 441290
7
Succinylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 306-40-1 5314
8
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
9
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Phase 1 303-53-7 2895
10
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 2078-54-8 4943
11
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1744-22-5 5070
12
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
13
Ramipril Approved Phase 4 87333-19-5 5362129
14
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 6740-88-1 3821
15
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
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
Magnesium oxide Approved Phase 4,Phase 2 1309-48-4 14792
21
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-84-3 187
22
Diazepam Approved, Illicit, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 439-14-5 3016
23
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
24
Etomidate Approved Phase 4,Phase 2 33125-97-2 36339 667484
25
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 437-38-7 3345
26
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59467-70-8 4192
27
Remifentanil Approved Phase 4,Phase 3,Phase 2 132875-61-7 60815
28
Sevoflurane Approved, Vet_approved Phase 4,Phase 1,Phase 2 28523-86-6 5206
29
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 137-58-6 3676
30
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2180-92-9, 38396-39-3 2474
31
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2 51-43-4 5816
32
Levobupivacaine Approved Phase 4,Phase 3 27262-47-1 92253
33
Ropivacaine Approved Phase 4,Phase 3,Phase 2,Phase 1 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
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
39
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
40
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
41
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
42
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1 58-39-9 4748
43
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
44
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-41-2 439260
45
Neostigmine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-99-4 4456
46
Guaifenesin Approved, 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 3 298-46-4 2554
49
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 124-94-7 31307
50
Methylphenidate Approved, Investigational Phase 4,Phase 2,Phase 3 113-45-1 4158

Interventional clinical trials:

(show top 50) (show all 5000)
id Name Status NCT ID Phase
1 Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
2 Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure. Unknown status NCT00331656 Phase 4
3 A Post-marketing Evaluation of a Compound Traditional Chinese Herbal Medicine, Qishe Pill, on Cervical Radiculopathy Unknown status NCT01875562 Phase 4
4 Imipramine and Pregabalin Combination in Painful Polyneuropathy Unknown status NCT01047488 Phase 4
5 Bi-Axial Rotating Magnetic Field Therapy in Refractory Neuropathic Foot Pain Secondary to Diabetic Peripheral Neuropathy Unknown status NCT00123136 Phase 4
6 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4
7 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4
8 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Unknown status NCT01941628 Phase 4
9 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
10 Evaluation of the Efficacy, Tolerability and Safety of Etoricoxib (Arcoxia) in Patients With Neuropathic Pain Unknown status NCT01264237 Phase 4
11 Deep vs Moderate Neuromuscular Blockade With Rocuronium in Patients Undergoing Endolaryngeal Procedures Unknown status NCT02451202 Phase 4
12 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
13 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Unknown status NCT00815282 Phase 4
14 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
15 Conservative Versus Aggressive Discectomy for Primary Disc Herniation With Radiculopathy Unknown status NCT01204008 Phase 4
16 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
17 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4
18 Preventing Pain After Heart Surgery Unknown status NCT01480765 Phase 4
19 Effects of Pregabalin on Mechanical Hyperalgesia Unknown status NCT00310583 Phase 4
20 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4
21 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
22 Qutenza for Critical Ischaemia in End Stage Renal Failure Unknown status NCT01704339 Phase 4
23 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4
24 Inspiratory Muscle Training in Patients With Autonomic Neuropathic Unknown status NCT00752440 Phase 4
25 Use of Sildenafil (Viagra) to Alter Fatigue, Functional Status and Impaired Cerebral Blood Flow in Patients With CFS Unknown status NCT00598585 Phase 4
26 Evaluation of the Impact of Training on Outcome Measures in Subjects With Painful Diabetic Neuropathy Unknown status NCT01770964 Phase 4
27 A Phase IV Trial of Neuroprotection With ACTH in Acute Optic Neuritis Unknown status NCT01838174 Phase 4
28 Immunogenicity of 1 or 2 Doses of bOPV in Chilean Infants Primed With IPV Vaccine Unknown status NCT01841671 Phase 4
29 Pregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4
30 Influence of Profound Muscle Relaxation on Muscle Trauma and Postoperative Pulmonary Function Unknown status NCT01804933 Phase 4
31 Magnesium in Liver Cirrhosis Unknown status NCT01894867 Phase 4
32 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4
33 Prevention of Posttraumatic Stress Disorder (PTSD) With Diazepam Unknown status NCT01221883 Phase 4
34 An Immunogenicity and Safety Study of Tetanus, Diphtheria and Acellular Pertussis Vaccine Booster Unknown status NCT00870350 Phase 4
35 Effects of Neuromuscular Blocking Agents (NMBA) on the Alteration of Transpulmonary Pressures at the Early Phase of Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT01573715 Phase 4
36 Efficacy Study of Botox for Depression Unknown status NCT01556971 Phase 4
37 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
38 Effects of Different Doses of Dexmedetomidine on Postoperative Cognitive Dysfunction in Elderly Hypertensive Patients Unknown status NCT02224443 Phase 4
39 Effects of Botulinum Toxin Type A(Meditoxin®) on Sleep Bruxism Unknown status NCT01336439 Phase 4
40 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Phase 4
41 Botox for Neurogenic Detrusor Overactivity and the Prevention of Autonomic Dysreflexia Following SCI Unknown status NCT02298660 Phase 4
42 Botulinum Toxin A for Treatment of Catocholamine Induced Finger Necrosis Unknown status NCT01500668 Phase 4
43 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4
44 Study of the Safety and Efficacy of Botox in Bruxism Unknown status NCT00908050 Phase 4
45 Ambulatory Adaptation to Non-Invasive Mechanical Ventilation Completed NCT00698958 Phase 4
46 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4
47 Comparison of the Analgesic Effect of Different Local Anesthetics in Interscalene Nerve Block for Shoulder Surgery Completed NCT02691442 Phase 4
48 The Effect of α-lipoic Acid Treatment in Patient With Cardiac Autonomic Neuropathy Completed NCT02056366 Phase 4
49 A Study to Assess the Efficacy and Safety of Oxycodone/Naloxone in Korean Patients With Chemotherapy-Induced Peripheral Neuropathy (CIPN) Completed NCT01675531 Phase 4
50 Intrathecal Bolus Doses of Ziconotide Completed NCT01373983 Phase 4

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
Heart, Skeletal Muscle, Testes, Lung, Bone, Spinal Cord, T Cells

Publications for Neuromuscular Disease

Articles related to Neuromuscular Disease:

(show top 50) (show all 628)
id Title Authors Year
1
A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland. ( 27927941 )
2017
2
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. ( 28078312 )
2017
3
An Overview of Cardiac Management in Neuromuscular Disease. ( 27347224 )
2016
4
Relationship between disability and life satisfaction in adult patients with neuromuscular disease. ( 27677022 )
2016
5
Skeletal muscle imaging in neuromuscular disease. ( 27612670 )
2016
6
Management of Spinal Deformity in Adult Patients With Neuromuscular Disease. ( 27471900 )
2016
7
Assessment of Motor Units in Neuromuscular Disease. ( 27600517 )
2016
8
Vital Capacity Impairment due to Neuromuscular Disease and its Correlation with Diaphragmatic Ultrasound: A Preliminary Study. ( 26620221 )
2016
9
Role of noninvasive ventilation in perioperative patients with neuromuscular disease: a clinical case. ( 26768933 )
2016
10
Neuromuscular disease: Benefit of thymectomy in myasthenia gravis. ( 27562551 )
2016
11
Neuromuscular Disease inA the Neurointensive Care Unit. ( 27521200 )
2016
12
The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status. ( 26968877 )
2016
13
Neuromuscular disease: Methotrexate has no steroid-sparing effect in patients with generalized myasthenia gravis. ( 27364745 )
2016
14
Exploring quality of life in people with slowly-progressive neuromuscular disease. ( 27342814 )
2016
15
Polyglutamine androgen receptor-mediated neuromuscular disease. ( 27188284 )
2016
16
Home monitoring of daytime mouthpiece ventilation effectiveness in patients with neuromuscular disease. ( 26703922 )
2016
17
Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease. ( 27536002 )
2016
18
Clinical course of growth in patients with congenital neuromuscular disease in a single multidisciplinary neuromuscular clinic. ( 26966796 )
2016
19
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
20
Mouthpiece ventilation and complementary techniques in patients with neuromuscular disease: A brief clinical review and update. ( 27932555 )
2016
21
One clinic's experience with carbon fiber orthoses in neuromuscular disease. ( 27356926 )
2016
22
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
23
Response to Noninvasive Pco2 Monitoring During Sleep for Patients with Neuromuscular Disease. ( 26745219 )
2016
24
Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy. ( 26670295 )
2016
25
Respiratory failure because of neuromuscular disease. ( 27427990 )
2016
26
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
27
Neuromuscular disease: Antisense oligonucleotide shows promise in SMA. ( 26915727 )
2016
28
Neuromuscular disease: Mitochondrial dysfunction could precipitate motor neuron loss in spinal muscular atrophy. ( 27562548 )
2016
29
Muscle Study Group Annual Meeting, Models of Neuromuscular Disease Across the Lifespan, Snowbird Ski & Summer Resort, Snowbird, UT, September 24-26, 2016. ( 27588585 )
2016
30
Neuromuscular Disease Models and Analysis. ( 27150099 )
2016
31
Medical School Hotline: Medical Student Insights on Pediatric Neuromuscular Disease in Hawai'i. ( 27099807 )
2016
32
Same-day physical therapy consults in an outpatient neuromuscular disease physician clinic. ( 27757040 )
2016
33
Neuromuscular Disease. ( 26966793 )
2016
34
Neuromuscular disease: Genome editing shows promise in an in vivo model of Duchenne muscular dystrophy. ( 26782331 )
2016
35
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. ( 27357428 )
2016
36
Registry Participation in Neuromuscular Disease. ( 27922505 )
2016
37
Abstracts from Muscle Study Group Meeting: Experimental Therapeutics Across the Spectrum of Neuromuscular Disease Snowbird Ski & Summer Resort Snowbird, UT, September 19-21, 2015. ( 26311044 )
2015
38
Neuromuscular disease: CRISPR/Cas9 gene-editing platform corrects mutations associated with Duchenne muscular dystrophy. ( 25752950 )
2015
39
MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. ( 26549782 )
2015
40
The New Zealand Neuromuscular Disease Registry: rate of diagnoses confirmed by molecular testing. ( 25443090 )
2015
41
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. ( 26001911 )
2015
42
WITHDRAWN: Rehabilitation interventions for foot drop in neuromuscular disease. ( 25927103 )
2015
43
Psychometric properties of the Duke Health Profile in neuromuscular disease population. ( 25986224 )
2015
44
Sleep Transcutaneous vs. End-Tidal CO2 Monitoring for Patients with Neuromuscular Disease. ( 26135371 )
2015
45
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease. ( 26141500 )
2015
46
Toxoplasmic encephalitis during mycophenolate mofetil immunotherapy of neuromuscular disease. ( 25635260 )
2015
47
Sleep-disordered Breathing in Neuromuscular Disease. ( 25723731 )
2015
48
Leriche-syndrome despite regular sport and non-compaction suggest neuromuscular disease. ( 25957931 )
2015
49
Frontotemporal dementia: a bridge between dementia and neuromuscular disease. ( 25557955 )
2015
50
Scoliosis and the impact in neuromuscular disease. ( 25434648 )
2015

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 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 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

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

id Super pathways Score Top Affiliating Genes
1 10.55 LAMA2 MUSK UTRN
2 10.23 DMD LAMA2

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 SMN-Sm protein complex GO:0034719 9.46 SMN1 SMN2
2 Z disc GO:0030018 9.46 DMD SMN1 SMN2 SYNC
3 filopodium membrane GO:0031527 9.43 DMD UTRN
4 neuromuscular junction GO:0031594 9.43 MUSK SYNC UTRN
5 dystrophin-associated glycoprotein complex GO:0016010 9.4 DMD UTRN
6 SMN complex GO:0032797 9.37 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 9.32 SMN1 SMN2
8 sarcolemma GO:0042383 9.26 DMD LAMA2 SYNC UTRN
9 filopodium GO:0030175 8.92 DMD MTM1 TRPV4 UTRN

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

id Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.54 DMPK RYR1 TRPV4
2 muscle organ development GO:0007517 9.46 DMD EMD LAMA2 UTRN
3 nuclear import GO:0051170 9.4 SMN1 SMN2
4 response to denervation involved in regulation of muscle adaptation GO:0014894 9.32 DMD UTRN
5 DNA-templated transcription, termination GO:0006353 9.26 SMN1 SMN2
6 muscle cell cellular homeostasis GO:0046716 9.13 DMD GAA MTM1
7 muscle contraction GO:0006936 9.02 EMD 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 actin binding GO:0003779 9.46 DMD EMD TRPV4 UTRN
2 ion channel activity GO:0005216 9.13 RYR1 SCN4A TRPV4
3 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
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34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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