MCID: NRM005
MIFTS: 63

Neuromuscular Disease

Categories: Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Neuromuscular Disease

MalaCards integrated aliases for Neuromuscular Disease:

Name: Neuromuscular Disease 11 58 28 5 14 16 75
Neuromuscular Diseases 53 43 14 71
Neuromuscular Disorders 41
Neuromuscular Disorder 38

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:440
ICD9CM 34 358
MeSH 43 D009468
SNOMED-CT 68 1664005
ICD10 31 G70.9
MESH via Orphanet 44 D009468
UMLS via Orphanet 72 C0027868
Orphanet 58 ORPHA68381
UMLS 71 C0027868

Summaries for Neuromuscular Disease

MedlinePlus: 41 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 unknown. 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 emery-dreifuss muscular dystrophy and central core disease of muscle, and has symptoms including tremor, myoclonus and back pain. An important gene associated with Neuromuscular Disease is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Cardiac conduction and Cytoskeletal Signaling. The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone marrow and spinal cord, and related phenotypes are muscle and homeostasis/metabolism

Disease Ontology: 11 A neuropathy that affect the nerves that control the voluntary muscles.

Wikipedia: 75 A neuromuscular disease is any disease affecting the peripheral nervous system (PNS),[a] 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 939)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 33.0 TTN LMNA LDB3 EMD DMD
2 central core disease of muscle 32.9 RYR1 DES ACTA1
3 myofibrillar myopathy 32.8 TTN SYNC SGCD RYR1 MYH7 LOC110121486
4 spinal muscular atrophy 32.7 UTRN TRPV4 SMN2 SMN1 LMNA DMD
5 myopathy 32.7 UTRN TTN-AS1 TTN SYNC SMN2 SMN1
6 myopathy, myofibrillar, 9, with early respiratory failure 32.6 TTN-AS1 TTN RYR1 MYH7 LDB3
7 muscular dystrophy 32.6 UTRN TTN-AS1 TTN SYNC SGCD RYR1
8 charcot-marie-tooth disease 32.6 TRPV4 SMN2 SMN1 LMNA EMD DCTN1
9 myopathy, myofibrillar, 3 32.5 TTN SYNC LDB3 DMD DES
10 facioscapulohumeral muscular dystrophy 1 32.5 TTN LMNA DMPK DMD ACTA1
11 myopathy, myofibrillar, 2 32.4 TTN SYNC LDB3 DMD
12 myopathy, myofibrillar, 5 32.4 TTN SYNC LDB3 DMD
13 myopathy, myofibrillar, 4 32.4 TTN LOC110121486 LDB3
14 scapuloperoneal syndrome, neurogenic, kaeser type 32.4 LDB3 DES
15 neuronopathy, distal hereditary motor, type va 32.4 VWA1 SMN2 SMN1
16 salih myopathy 32.2 TTN-AS1 TTN
17 respiratory failure 32.2 TTN RYR1 MYH7 DMD DCTN1 ACTA1
18 spinal muscular atrophy, x-linked 2 32.1 SMN2 SMN1
19 muscular atrophy 32.1 TTN TRPV4 SMN2 SMN1 RYR1 LMNA
20 muscular dystrophy, duchenne type 32.0 UTRN TTN SGCD DMD DES
21 limb-girdle muscular dystrophy 32.0 UTRN TTN-AS1 TTN SGCD RYR1 LMNA
22 myotonic dystrophy 1 31.9 TTN SMN2 SMN1 RYR1 MYH7 LDB3
23 batten-turner congenital myopathy 31.6 TTN-AS1 TTN RYR1 MYH7 DMD DES
24 muscular dystrophy, congenital, lmna-related 31.5 TTN-AS1 TTN SYNC RYR1 MYH7 LMNA
25 scoliosis 31.5 TTN-AS1 TTN TRPV4 RYR1 DMD
26 muscular dystrophy, becker type 31.5 UTRN TTN SYNC SGCD DMD
27 congenital myasthenic syndrome 31.5 UTRN TTN SMN2 SMN1 RYR1 MYH7
28 peripheral nervous system disease 31.3 TTN TRPV4 SMN2 SMN1 RYR1 LMNA
29 dilated cardiomyopathy 31.3 UTRN TTN-AS1 TTN SGCD RYR1 MYH7
30 cardiomyopathy, familial hypertrophic, 1 31.3 TTN RYR1 MYH7 LMNA LDB3 DMD
31 distal arthrogryposis 31.3 TTN TRPV4 SMN2 SMN1 RYR1 MYH7
32 malignant hyperthermia 31.2 RYR1 MYH7 DMD
33 spinal and bulbar muscular atrophy, x-linked 1 31.2 SMN2 SMN1 DMPK DCTN1
34 centronuclear myopathy 31.2 TTN-AS1 TTN RYR1 MYH7 DMD DES
35 left ventricular noncompaction 31.2 TTN-AS1 TTN SGCD MYH7 LMNA LDB3
36 muscular dystrophy, limb-girdle, autosomal recessive 2 31.1 UTRN TTN SGCD LMNA EMD DMD
37 congenital fiber-type disproportion 31.1 TTN RYR1 MYH7 LMNA LDB3 EMD
38 muscular disease 31.1 UTRN TTN SMN2 SMN1 SGCD RYR1
39 spinal muscular atrophy, type i 31.1 SMN2 SMN1 DMD
40 autosomal recessive limb-girdle muscular dystrophy type 2a 31.1 TTN SGCD LMNA DMD
41 autosomal recessive limb-girdle muscular dystrophy 31.1 UTRN TTN SGCD RYR1 LMNA LDB3
42 rigid spine muscular dystrophy 1 31.0 TTN RYR1 MYH7 LMNA LDB3 EMD
43 barth syndrome 31.0 TTN MYH7 LMNA LDB3
44 spinal muscular atrophy, type iii 30.9 SMN2 SMN1 DMD
45 arrhythmogenic right ventricular cardiomyopathy 30.9 TTN SGCD RYR1 MYH7 LMNA LDB3
46 hypertrophic cardiomyopathy 30.9 TTN-AS1 TTN SGCD RYR1 MYH7 LMNA
47 restrictive cardiomyopathy 30.8 TTN-AS1 TTN SGCD MYH7 LMNA LDB3
48 foot drop 30.8 TTN ACTA1
49 isolated elevated serum creatine phosphokinase levels 30.8 TTN SGCD RYR1 MYH7 LMNA LDB3
50 autosomal recessive limb-girdle muscular dystrophy type 2c 30.8 SGCD DMD

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:


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

MGI Mouse Phenotypes related to Neuromuscular Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.39 ACTA1 DCTN1 DES DMD DMPK EMD
2 homeostasis/metabolism MP:0005376 10.3 ACTA1 DCTN1 DES DMD DMPK EMD
3 cardiovascular system MP:0005385 10.22 DES DMD DMPK EMD LDB3 LMNA
4 behavior/neurological MP:0005386 10.13 ACTA1 DCTN1 DES DMD EMD LDB3
5 limbs/digits/tail MP:0005371 9.95 DMD LMNA RYR1 SMN1 SMN2 TTN
6 respiratory system MP:0005388 9.81 DMD LDB3 LMNA RYR1 SGCD SMN1
7 skeleton MP:0005390 9.61 ACTA1 DMD LMNA RYR1 SMN1 SMN2
8 mortality/aging MP:0010768 9.44 ACTA1 DCTN1 DES DMD LDB3 LMNA

Drugs & Therapeutics for Neuromuscular Disease

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

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Immunologic Factors Phase 4
3
Edaravone Approved, Investigational Phase 2, Phase 3 89-25-8 4021 70335
4
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
5
Risdiplam Approved, Investigational Phase 3 1825352-65-5 118513932
6
Cyclobenzaprine Approved Phase 3 303-53-7 2895
7 Antioxidants Phase 2, Phase 3
8 Protective Agents Phase 2, Phase 3
9 Neuroprotective Agents Phase 2, Phase 3
10 Excitatory Amino Acid Antagonists Phase 2, Phase 3
11 Anticonvulsants Phase 2, Phase 3
12 Pharmaceutical Solutions Phase 3
13 Mitogens Phase 3
14 Immunoglobulins Phase 3
15 Antibodies Phase 3
16 Immunoglobulins, Intravenous Phase 3
17 Immunoglobulin G Phase 3
18 Antibodies, Monoclonal Phase 3
19 Psychotropic Drugs Phase 3
20 Antidepressive Agents, Tricyclic Phase 3
21 Antidepressive Agents Phase 3
22
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 581 12035
23
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 2 14838-15-4, 492-39-7 131954576 4786 26934
24
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
25
Tocopherylquinone Experimental, Investigational Phase 2 7559-04-8 24205
26 Antiviral Agents Phase 1, Phase 2
27 Anti-Infective Agents Phase 1, Phase 2
28 Expectorants Phase 1, Phase 2
29 Antidotes Phase 1, Phase 2
30 N-monoacetylcystine Phase 1, Phase 2
31 4-phenylbutyric acid Phase 2
32 Ursodoxicoltaurine Phase 2
33 glucocorticoids Phase 2
34 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
35 Antihypertensive Agents Phase 2
36 Anticoagulants Phase 2
37
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
38 Hypoglycemic Agents Phase 1
39
Cocaine Approved, Illicit 50-36-2 446220 5760
40
Sulfamethazine Approved, Investigational, Vet_approved 57-68-1 5327
41
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
42
Tannic acid Approved 1401-55-4 16129878 16129778
43
Zidovudine Approved 30516-87-1 35370
44
Metformin Approved 1115-70-4, 657-24-9 4091
45
Oseltamivir Approved 204255-11-8, 196618-13-0 65028
46
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
47
Lidocaine Approved, Vet_approved 137-58-6 3676
48
Salbutamol Approved, Vet_approved 18559-94-9 2083
49
Chlorhexidine Approved, Vet_approved, Withdrawn 55-56-1 2713 9552079
50
Imidacloprid Vet_approved 105827-78-9 86418

Interventional clinical trials:

(show top 50) (show all 208)
# Name Status NCT ID Phase Drugs
1 A Pilot Study: Comparing Physiological Parameters and Outcome Variables Using Pressure Support Ventilation Versus Pressure Controlled Ventilation in Patients With Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
2 Non-Invasive Positive Pressure Mask Ventilation vs Extrathoracic Biphasic Cuirass Ventilation in Patients With Acute Respiratory Failure: A Randomized Prospective Study. Unknown status NCT00331656 Phase 4
3 A Randomized Trial to Compare the Effectiveness of Hospital or Ambulatory Approach for Adaptation to Non-Invasive Mechanical Ventilation in Patients With Chronic Respiratory Failure Secondary to Neuromuscular Diseases or Thoracic Cage Alterations Completed NCT00698958 Phase 4
4 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
5 Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS) in a Representative Iranian Population Unknown status NCT03272802 Phase 2, Phase 3 Edaravone;Riluzole
6 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
7 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
8 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TNX-102 SL Tablets Taken Daily at Bedtime in Patients With Fibromyalgia Completed NCT02436096 Phase 3 TNX-102 SL Tablet, 2.8mg;Placebo SL Tablet
9 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
10 Phase 3, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Apitegromab (SRK-015) in Patients With Later-Onset Spinal Muscular Atrophy Receiving Background Nusinersen or Risdiplam Therapy Recruiting NCT05156320 Phase 3 Apitegromab;Placebo
11 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Efficacy and Safety of Human Allogeneic Cardiosphere-Derived Cells for the Treatment of Duchenne Muscular Dystrophy Recruiting NCT05126758 Phase 3 Placebo
12 A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants With Spinal Muscular Atrophy With Open-Label Extension Recruiting NCT05337553 Phase 3 tadefgrobep alfa;Placebo
13 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Active, not recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
14 An Open-Label, Multicenter, Extension Trial to Evaluate the Long-Term Safety and Efficacy of Apitegromab in Patients With Type 2 and Type 3 Spinal Muscular Atrophy Who Completed Previous Investigational Trials of Apitegromab Not yet recruiting NCT05626855 Phase 3 Apitegromab
15 Evaluation of a Mechanical Insufflation-exsufflation Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders: a Prospective, Randomized, Controlled, Multicenter Study Terminated NCT00839033 Phase 3
16 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
17 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study To Evaluate The EFFIcacy and Safety of TNX-102 SL Tablets Taken Daily At Bedtime In Patients With FibRoMyalgia Terminated NCT02829814 Phase 3 TNX-102 SL Tablet, 2.8 mg;Placebo SL Tablet
18 P300 Brain Computer Interface Keyboard to Operate Assistive Technology Completed NCT00860951 Phase 1, Phase 2
19 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
20 A Clinical Trial to Optimise Patient-ventilator Interaction in Patients With Chronic Respiratory Failure Completed NCT01371149 Phase 2
21 Evaluation of the Safety, Tolerability, Efficacy and Activity of AMX0035, a Fixed Combination of Phenylbutyrate (PB) and Tauroursodeoxycholic Acid (TUDCA), for the Treatment of ALS Completed NCT03127514 Phase 2 AMX0035
22 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Safety and Efficacy of Intravenous Delivery of Allogeneic Cardiosphere-Derived Cells in Subjects With Duchenne Muscular Dystrophy Completed NCT03406780 Phase 2 Placebo
23 Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK-015 in Patients With Later-Onset Spinal Muscular Atrophy (TOPAZ) Active, not recruiting NCT03921528 Phase 2
24 A Phase 2 Extension Study to Evaluate the Long-Term Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) Patients Enrolling by invitation NCT05479981 Phase 2 Placebo;AOC 1001
25 Measurement of Assisted Vital Capacity to Appreciate the Level of Recruitment in Neuromuscular Diseases Terminated NCT02022072 Phase 2
26 A Phase 2a, Double Blind, Randomized, Placebo-controlled, 28 Day, Two-arm, Parallel Group Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation and Evidence of Impaired Mitochondrial Function Terminated NCT01074359 Phase 2 A0001 (alpha-tocopherolquinone);Placebo
27 Randomized Trial Comparing Telemedicine Monitoring and Titration in Patients Initiating Non-invasive Ventilation With Usual Care (TELEMOTINIV Study) Unknown status NCT01560741 Phase 1
28 The Evaluation of Therapeutic Riding in Children and Adolescent With Kinetic Deficits Because of Neuromuscular Disease. Completed NCT01621984 Phase 1
29 Crossover Trial of VPAP (Variable Positive Airway Pressure) Ventilation Versus AutoVPAP in Neuromuscular and Chest Wall Disease: Effects on Nocturnal Hypoventilation, Sleep Quality and Tolerance Completed NCT00252252 Phase 1
30 An Open-label, Phase 1 Trial for Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell("HYNR-CS-Allo Inj") Treatment in Amyotrophic Lateral Sclerosis(ALS) Completed NCT01758510 Phase 1
31 An Open-Label Pilot Study of Pioglitazone in Sporadic Inclusion Body Myositis Completed NCT03440034 Phase 1 Pioglitazone
32 Long-Term Effect of LIAM (Lung Insufflation Assist Maneuver) on Respiratory Performance in Non-invasive Ventilated Patients Suffering From Neuromuscular Disease Unknown status NCT02288299
33 Neuropsychological and Psychosocial Follow up of Children and Adolescents With Neuromuscular Disease Unknown status NCT02253290
34 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
35 National Registry for Egyptian Pediatric Neuromuscular Diseases Unknown status NCT02124616
36 MR in Patients With Neuromuscular Diseases Unknown status NCT03693898
37 Prospective Evaluation of Bulbar Function in Neuromuscular Patients Unknown status NCT02097368
38 Comparison Between Breath Stacking Technique Associated With Expiratory Muscle Training and Breath Stacking Technique in Amyotrophic Lateral Sclerosis Patients: a Randomized Single Blind Trial Unknown status NCT04226144
39 Installation of Non-invasive Ventilation at Home Using Telemedicine : a Pilot Study on Feasibility and Impact on Ventilation Compliance Unknown status NCT02103790
40 Implementation and Evaluation of Solution Focused Coaching Strategy Within a Paediatric Multidisciplinary Neuromuscular Clinic Unknown status NCT02997514
41 Impact of the Pre-phonatory Inspiratory Volume on the Speech Quality of Neuromuscular Patients Dependent on Non-invasive Ventilation Unknown status NCT03381937
42 Effect of Functional Massage in Gastrocnemious Muscles Neuromuscular Response Unknown status NCT03964961
43 Effects of Pre-event Massage Over the Neuromuscular Response of Gastrocnemius Muscles Unknown status NCT03941067
44 Investigating The Effects of Fear of Falling on Physical Performance and Quality of Life in Children With Duchenne Muscular Dystrophy Unknown status NCT03507530
45 Evaluation of the Effect of a Speech Detection Tool on the Improvement of Phonation in Neuromuscular Patients Dependent on Mechanical Ventilation Unknown status NCT03504514
46 Non-Invasive Respiratory Monitor Unknown status NCT02851043
47 Prognostic Factors, Morbidity, Mortality and Long Term Survival in Patients With Neuromuscular Disorders Admitted in Intensive Care Unit Unknown status NCT02685215
48 Response to NonInvasive Mechanical Ventilation According to the Breathing Pattern Unknown status NCT01991535
49 Multimodal Measurement of Respiratory Muscle Strength and Function: Validation of Volitional and Non-volitional Tests With Regard to Nocturnal Hypoventilation in Patients With Neuromuscular Disorders and Chronic Obstructive Pulmonary Disease Unknown status NCT03032562
50 Diaphragm Ultrasound in Neuromuscular Disorders Unknown status NCT04045158

Search NIH Clinical Center for Neuromuscular Disease

Cochrane evidence based reviews: neuromuscular diseases

Genetic Tests for Neuromuscular Disease

Genetic tests related to Neuromuscular Disease:

# Genetic test Affiliating Genes
1 Neuromuscular Disease 28

Anatomical Context for Neuromuscular Disease

Organs/tissues related to Neuromuscular Disease:

MalaCards : Skeletal Muscle, Bone Marrow, Spinal Cord, Lung, Brain, Bone, Heart

Publications for Neuromuscular Disease

Articles related to Neuromuscular Disease:

(show top 50) (show all 12094)
# Title Authors PMID Year
1
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 62 5
24627108 2014
2
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 62 5
23553787 2013
3
Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. 62 5
1178008 1975
4
Respiratory muscle training in neuromuscular disease: a systematic review and meta-analysis. 62 41
36450369 2022
5
Neuromuscular diseases and social distance resulting from the COVID-19 pandemic. 62 41
36254444 2022
6
Early immunological responses to the mRNA SARS-CoV-2 vaccine in patients with neuromuscular disorders. 62 41
36248823 2022
7
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. 5
28798025 2017
8
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 5
28679633 2017
9
Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. 5
28349680 2017
10
Mitochondrial dysfunction in myofibrillar myopathy. 5
27618136 2016
11
Structure of the F-actin-tropomyosin complex. 5
25470062 2015
12
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 5
25637381 2015
13
A rare mutation in MYH7 gene occurs with overlapping phenotype. 5
25576864 2015
14
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
15
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. 5
25476234 2014
16
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. 5
24915601 2014
17
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. 5
24951453 2014
18
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 5
24664454 2014
19
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. 5
24668811 2014
20
ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. 5
24647531 2014
21
Using exome data to identify malignant hyperthermia susceptibility mutations. 5
24195946 2013
22
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 5
23975875 2013
23
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 5
23815709 2013
24
Myosinopathies: pathology and mechanisms. 5
22918376 2013
25
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 5
22473935 2012
26
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 5
22153487 2012
27
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. 5
21455645 2011
28
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 5
20696008 2011
29
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. 5
21062345 2011
30
RYR1 mutations are a common cause of congenital myopathies with central nuclei. 5
20839240 2010
31
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 5
20080402 2010
32
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. 5
19446900 2009
33
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 5
19716701 2009
34
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 5
19645060 2009
35
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 5
19562689 2009
36
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 5
19587455 2009
37
Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. 5
19377068 2009
38
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 5
19477645 2009
39
Distinct muscle imaging patterns in myofibrillar myopathies. 5
18765652 2008
40
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 5
18253926 2008
41
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 5
18646565 2007
42
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 5
17377071 2007
43
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 5
17483490 2007
44
Zaspopathy in a large classic late-onset distal myopathy family. 5
17337483 2007
45
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. 5
17355552 2007
46
Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes. 5
17227580 2007
47
Mutations in ZASP define a novel form of muscular dystrophy in humans. 5
15668942 2005
48
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. 5
15678000 2005
49
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 5
15226407 2004
50
Desmin myopathy. 5
14724127 2004

Variations for Neuromuscular Disease

ClinVar genetic disease variations for Neuromuscular Disease:

5 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EMD NM_000117.3(EMD):c.266-2A>G SNV Pathogenic
163403 rs727503036 GRCh37: X:153608592-153608592
GRCh38: X:154380232-154380232
2 LDB3, LOC110121486 NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) SNV Pathogenic
4728 rs121908334 GRCh37: 10:88446975-88446975
GRCh38: 10:86687218-86687218
3 EMD NM_000117.3(EMD):c.650_654dup (p.Gln219fs) MICROSAT Pathogenic
179133 rs730880352 GRCh37: X:153609432-153609433
GRCh38: X:154381072-154381073
4 ACTA1 NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) SNV Pathogenic
228243 rs121909525 GRCh37: 1:229567741-229567741
GRCh38: 1:229431994-229431994
5 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) SNV Pathogenic
133012 rs193922839 GRCh37: 19:39025415-39025415
GRCh38: 19:38534775-38534775
6 TRPV4 NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu) SNV Pathogenic
30476 rs387906907 GRCh37: 12:110238450-110238450
GRCh38: 12:109800645-109800645
7 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) SNV Pathogenic
159856 rs200563280 GRCh37: 19:38987106-38987106
GRCh38: 19:38496466-38496466
8 LMNA NM_170707.4(LMNA):c.1608+1G>A SNV Pathogenic
66853 rs267607592 GRCh37: 1:156107024-156107024
GRCh38: 1:156137233-156137233
9 TTN-AS1, TTN NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer) MICROSAT Pathogenic
178839 rs727504483 GRCh37: 2:179434463-179434466
GRCh38: 2:178569736-178569739
10 MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) SNV Pathogenic
43069 rs397516248 GRCh37: 14:23884362-23884362
GRCh38: 14:23415153-23415153
11 SGCD NM_000337.6(SGCD):c.390del (p.Ala131fs) DEL Likely Pathogenic
48118 rs397517921 GRCh37: 5:156021946-156021946
GRCh38: 5:156594936-156594936
12 DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter) SNV Likely Pathogenic
177872 rs150974575 GRCh37: 2:220288539-220288539
GRCh38: 2:219423817-219423817
13 DES NM_001927.4(DES):c.35C>T (p.Ser12Phe) SNV Likely Pathogenic
66412 rs267607495 GRCh37: 2:220283219-220283219
GRCh38: 2:219418497-219418497
14 DES NM_001927.4(DES):c.600del (p.Lys201fs) DEL Likely Pathogenic
178660 rs727504448 GRCh37: 2:220284838-220284838
GRCh38: 2:219420116-219420116
15 DES NM_001927.4(DES):c.1360C>T (p.Arg454Trp) SNV Likely Pathogenic
66402 rs267607490 GRCh37: 2:220290456-220290456
GRCh38: 2:219425734-219425734
16 VWA1 NM_022834.5(VWA1):c.62_71del (p.Gly21fs) MICROSAT Likely Pathogenic
830324 rs749383814 GRCh37: 1:1371179-1371188
GRCh38: 1:1435799-1435808
17 VWA1 NM_022834.5(VWA1):c.252del (p.Glu85fs) DEL Likely Pathogenic
830325 rs767263669 GRCh37: 1:1372484-1372484
GRCh38: 1:1437104-1437104
18 VWA1 NM_022834.5(VWA1):c.94C>T (p.Arg32Ter) SNV Likely Pathogenic
830326 rs762573767 GRCh37: 1:1372327-1372327
GRCh38: 1:1436947-1436947
19 VWA1 NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) MICROSAT Likely Pathogenic
830327 rs749383814 GRCh37: 1:1371178-1371179
GRCh38: 1:1435798-1435799
20 VWA1 NM_022834.5(VWA1):c.879del (p.Arg293fs) DEL Likely Pathogenic
830328 rs746212067 GRCh37: 1:1374707-1374707
GRCh38: 1:1439327-1439327
21 VWA1 NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del) DEL Likely Pathogenic
830329 rs1638559065 GRCh37: 1:1372416-1372439
GRCh38: 1:1437036-1437059
22 RYR1 NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) SNV Likely Pathogenic
133075 rs193922879 GRCh37: 19:39071022-39071022
GRCh38: 19:38580382-38580382
23 LMNA NM_170707.4(LMNA):c.1146C>T (p.Gly382=) SNV Likely Pathogenic
48032 rs57508089 GRCh37: 1:156105901-156105901
GRCh38: 1:156136110-156136110
24 TTN NM_001267550.2(TTN):c.15496+1G>A SNV Likely Pathogenic
46601 rs397517481 GRCh37: 2:179599054-179599054
GRCh38: 2:178734327-178734327
25 SGCD NM_000337.6(SGCD):c.294+1G>A SNV Likely Pathogenic
165232 rs727503422 GRCh37: 5:155935713-155935713
GRCh38: 5:156508703-156508703
26 EMD NM_000117.3(EMD):c.83-2A>G SNV Likely Pathogenic
179496 rs727504901 GRCh37: X:153608048-153608048
GRCh38: X:154379688-154379688
27 MT-TL1 NC_012920.1:m.3275C>T SNV Uncertain Significance
370045 rs1057516057 GRCh37: MT:3275-3275
GRCh38: MT:3275-3275
28 RYR1 NM_000540.3(RYR1):c.957+5_957+29del DEL Uncertain Significance
193600 rs794726982 GRCh37: 19:38939156-38939180
GRCh38: 19:38448513-38448537
29 TRPV4 NM_021625.5(TRPV4):c.2396_2412del (p.Pro799fs) DEL Not Provided
126478 rs515726166 GRCh37: 12:110222167-110222183
GRCh38: 12:109784362-109784378
30 TRPV4 NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) SNV Not Provided
30472 rs387906904 GRCh37: 12:110240814-110240814
GRCh38: 12:109803009-109803009
31 TRPV4 NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp) SNV Not Provided
30474 rs397514474 GRCh37: 12:110252370-110252370
GRCh38: 12:109814565-109814565
32 TRPV4 NM_021625.5(TRPV4):c.806G>A (p.Arg269His) SNV Not Provided
5000 rs267607144 GRCh37: 12:110238470-110238470
GRCh38: 12:109800665-109800665
33 TRPV4 NM_021625.5(TRPV4):c.947G>A (p.Arg316His) SNV Not Provided
30473 rs387906905 GRCh37: 12:110236624-110236624
GRCh38: 12:109798819-109798819
34 TRPV4 NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) SNV Not Provided
39419 rs397514494 GRCh37: 12:110246103-110246103
GRCh38: 12:109808298-109808298
35 TRPV4 NM_021625.5(TRPV4):c.1772A>G (p.Tyr591Cys) SNV Not Provided
126467 rs515726157 GRCh37: 12:110230509-110230509
GRCh38: 12:109792704-109792704
36 TRPV4 NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) SNV Not Provided
126480 rs187864727 GRCh37: 12:110240859-110240859
GRCh38: 12:109803054-109803054
37 TRPV4 NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr) SNV Not Provided
30469 rs387906902 GRCh37: 12:110231365-110231365
GRCh38: 12:109793560-109793560
38 TRPV4 NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg) SNV Not Provided
18432 rs121912637 GRCh37: 12:110222183-110222183
GRCh38: 12:109784378-109784378
39 TRPV4 NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) SNV Not Provided
4999 rs267607143 GRCh37: 12:110236628-110236628
GRCh38: 12:109798823-109798823
40 TRPV4 NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) SNV Not Provided
4993 rs121912633 GRCh37: 12:110230201-110230201
GRCh38: 12:109792396-109792396
41 TRPV4 NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) SNV Not Provided
5002 rs267607146 GRCh37: 12:110238471-110238471
GRCh38: 12:109800666-109800666
42 TRPV4 NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile) SNV Not Provided
30475 rs387906906 GRCh37: 12:110224632-110224632
GRCh38: 12:109786827-109786827
43 TRPV4 NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) SNV Not Provided
4994 rs77975504 GRCh37: 12:110230500-110230500
GRCh38: 12:109792695-109792695
44 TRPV4 NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) SNV Not Provided
5001 rs267607145 GRCh37: 12:110236625-110236625
GRCh38: 12:109798820-109798820
45 TRPV4 NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys) SNV Not Provided
18434 rs267607148 GRCh37: 12:110238444-110238444
GRCh38: 12:109800639-109800639
46 TRPV4 NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) SNV Not Provided
18435 rs267607149 GRCh37: 12:110222190-110222190
GRCh38: 12:109784385-109784385

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 cortical actin cytoskeleton GO:0030864 9.88 UTRN TRPV4 DMD
2 filopodium GO:0030175 9.86 UTRN TRPV4 DMD ACTA1
3 sarcoplasmic reticulum GO:0016529 9.77 SGCD RYR1 DMPK
4 SMN complex GO:0032797 9.76 SMN2 SMN1
5 sarcolemma GO:0042383 9.73 UTRN SYNC SGCD RYR1 DMD DES
6 dystrophin-associated glycoprotein complex GO:0016010 9.63 DMD SGCD UTRN
7 striated muscle thin filament GO:0005865 9.61 TTN ACTA1
8 Z disc GO:0030018 9.58 TTN SYNC SMN2 SMN1 RYR1 MYH7
9 plasma membrane bounded cell projection GO:0120025 9.32 UTRN DMD

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

# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.73 TTN MYH7 LDB3
2 cardiac muscle contraction GO:0060048 9.7 TTN SGCD MYH7 DMD
3 skeletal muscle thin filament assembly GO:0030240 9.62 TTN ACTA1
4 muscle organ development GO:0007517 9.61 UTRN SGCD LMNA EMD DMD
5 muscle contraction GO:0006936 9.47 UTRN TTN RYR1 MYH7 EMD DES

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.76 LMNA DMD DES ACTA1
2 actin filament binding GO:0051015 9.65 UTRN TTN TRPV4 MYH7 DMD
3 actin binding GO:0003779 9.36 UTRN TRPV4 MYH7 LDB3 EMD DMD

Sources for Neuromuscular Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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