MCID: MSC003
MIFTS: 52

Muscular Atrophy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Atrophy

MalaCards integrated aliases for Muscular Atrophy:

Name: Muscular Atrophy 12 44 15 70
Muscle Wasting 12 6 15
Skeletal Muscle Atrophy 70
Wasting - Muscle 12
Amyotrophia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:767
MeSH 44 D009133
NCIt 50 C94834
SNOMED-CT 67 267693003
UMLS 70 C0026846 C0541794

Summaries for Muscular Atrophy

MalaCards based summary : Muscular Atrophy, also known as muscle wasting, is related to spinal and bulbar muscular atrophy, x-linked 1 and spinal muscular atrophy, x-linked 2, and has symptoms including muscle weakness, myokymia and muscular fasciculation. An important gene associated with Muscular Atrophy is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). The drugs Goserelin and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, spinal cord and kidney, and related phenotypes are behavior/neurological and muscle

Related Diseases for Muscular Atrophy

Diseases in the Muscular Atrophy family:

Progressive Muscular Atrophy

Diseases related to Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 877)
# Related Disease Score Top Affiliating Genes
1 spinal and bulbar muscular atrophy, x-linked 1 33.7 SMN2 SMN1 DNAJB2 AR
2 spinal muscular atrophy, x-linked 2 33.7 UBA1 SMN2 SMN1 IGHMBP2
3 spinal muscular atrophy, distal, autosomal recessive, 1 33.7 SMN2 SMN1 IGHMBP2 GARS1
4 spinal muscular atrophy, type ii 33.6 SMN2 SMN1 NAIP IGHMBP2 BICD2
5 spinal muscular atrophy, type i 33.6 SMN2 SMN1 NAIP IGHMBP2
6 spinal muscular atrophy, type iv 33.6 SMN2 SMN1 NAIP
7 spinal muscular atrophy with progressive myoclonic epilepsy 33.6 SMN2 SMN1 ASAH1
8 spinal muscular atrophy, type iii 33.6 SMN2 SMN1 SERF1A NAIP IGHMBP2 ATP7A
9 spinal muscular atrophy 33.6 ZPR1 VAPB UBA1 TRPV4 TRIP4 SMN2
10 neuronopathy, distal hereditary motor, type va 33.4 SMN2 SMN1 PLEKHG5 IGHMBP2 GARS1 DNAJB2
11 scapuloperoneal spinal muscular atrophy 33.4 TRPV4 IGHMBP2 GARS1 BICD2
12 spinal muscular atrophy, distal, autosomal recessive, 2 33.4 TRPV4 GARS1 BICD2
13 spinal muscular atrophy, distal, autosomal recessive, 4 33.3 SMN2 SMN1 PLEKHG5
14 progressive muscular atrophy 33.3 VAPB TRPV4 SMN2 SMN1
15 spinal muscular atrophy with lower extremity predominance 33.3 VAPB IGHMBP2 GARS1 DYNC1H1 BICD2
16 proximal spinal muscular atrophy 33.0 VAPB SMN2 SMN1 NAIP BICD2
17 childhood spinal muscular atrophy 33.0 SMN2 SMN1 SERF1A NAIP IGHMBP2
18 charcot-marie-tooth hereditary neuropathy 32.9 IGHMBP2 GARS1
19 spinal muscular atrophy type 0 32.9 SMN2 SMN1
20 autosomal dominant distal hereditary motor neuronopathy 32.9 IGHMBP2 GARS1 BICD2
21 motor neuron disease 32.8 VAPB TRPV4 SMN2 SMN1 PLEKHG5 NAIP
22 autosomal recessive distal hereditary motor neuronopathy 32.7 SMN2 SMN1 PLEKHG5 IGHMBP2 GARS1 ATP7A
23 neuromuscular disease 32.5 TRPV4 TRIP4 SMN2 SMN1 NAIP IGHMBP2
24 charcot-marie-tooth disease 32.4 TRPV4 SMN2 PLEKHG5 IGHMBP2 GARS1 DYNC1H1
25 distal hereditary motor neuronopathy type 7 32.3 PLEKHG5 DYNC1H1
26 motor peripheral neuropathy 32.3 TRPV4 IGHMBP2 GARS1 DYNC1H1 DNAJB2 BICD2
27 spinal disease 32.2 SMN2 SMN1 NAIP AR
28 autosomal dominant childhood-onset proximal spinal muscular atrophy 32.1 DYNC1H1 BICD2
29 neuronopathy, distal hereditary motor, type iib 32.1 IGHMBP2 GARS1
30 amyotrophic lateral sclerosis 1 32.0 VAPB TRIP4 SMN2 SMN1 NAIP IGHMBP2
31 neuropathy 31.6 TRPV4 IGHMBP2 GARS1 DYNC1H1 BICD2
32 tooth disease 31.6 TRPV4 PLEKHG5 IGHMBP2 GARS1 DYNC1H1 ATP7A
33 anterior horn cell disease 31.3 SMN2 SMN1 IGHMBP2
34 charcot-marie-tooth disease, axonal, type 2e 31.3 TRPV4 SMN2 SMN1 IGHMBP2 GARS1 DNAJB2
35 congenital contractures 31.1 UBA1 TRIP4
36 peripheral nervous system disease 31.1 TRPV4 SMN2 SMN1 GARS1
37 tay-sachs disease 31.0 SMN2 SMN1 ASAH1
38 distal arthrogryposis 30.8 SMN1 BICD2 ATP2B3 ASAH1
39 hereditary motor and sensory neuropathy, type iic 30.8 TRPV4 GARS1
40 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.8
41 spinal muscular atrophy, distal, x-linked 3 11.7
42 spinal muscular atrophy, late-onset, finkel type 11.7
43 neuronopathy, distal hereditary motor, type viii 11.7
44 spastic paraplegia 20, autosomal recessive 11.7
45 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 11.7
46 spinal muscular atrophy with congenital bone fractures 1 11.6
47 spinal muscular atrophy, distal, autosomal recessive, 3 11.6
48 spinal muscular atrophy, jokela type 11.6
49 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 11.6
50 primrose syndrome 11.6

Graphical network of the top 20 diseases related to Muscular Atrophy:



Diseases related to Muscular Atrophy

Symptoms & Phenotypes for Muscular Atrophy

UMLS symptoms related to Muscular Atrophy:


muscle weakness; myokymia; muscular fasciculation; muscle cramp; spasm; neuromuscular manifestations

MGI Mouse Phenotypes related to Muscular Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 AR ASAH1 ATP2B3 ATP7A BICD2 DNAJB2
2 muscle MP:0005369 9.65 AR ASAH1 ATP7A DYNC1H1 GARS1 IGHMBP2
3 pigmentation MP:0001186 9.02 AR ATP2B3 ATP7A DNAJB2 SMCHD1

Drugs & Therapeutics for Muscular Atrophy

Drugs for Muscular Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 156)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Goserelin Approved Phase 4 65807-02-5 47725 5311128
2
carbamide peroxide Approved Phase 4 124-43-6
3
Acetaminophen Approved Phase 4 103-90-2 1983
4 Antineoplastic Agents, Hormonal Phase 4
5 Androgens Phase 4
6 Immunologic Factors Phase 4
7 Vaccines Phase 4
8 Analgesics, Non-Narcotic Phase 4
9 Analgesics Phase 4
10 Antipyretics Phase 4
11
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
12
Ketoprofen Approved, Vet_approved Phase 3 22071-15-4 3825
13
Ibuprofen Approved Phase 3 15687-27-1 3672
14
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
15
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 15589840
16
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
17
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
18
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
19
Risdiplam Approved, Investigational Phase 2, Phase 3 1825352-65-5
20
Testosterone Approved, Investigational Phase 2, Phase 3 58-22-0 6013
21
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
22
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0
23
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
24
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
25
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
26
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
27 beta-Hydroxy-beta-methylbutyrate Phase 2, Phase 3
28 Hormone Antagonists Phase 3
29 Hormones Phase 3
30 Cyclooxygenase Inhibitors Phase 3
31 Antirheumatic Agents Phase 3
32 Anti-Inflammatory Agents Phase 3
33 Anti-Inflammatory Agents, Non-Steroidal Phase 3
34 Protective Agents Phase 2, Phase 3
35 Vitamin B9 Phase 2, Phase 3
36 Trace Elements Phase 2, Phase 3
37 Nutrients Phase 2, Phase 3
38 Micronutrients Phase 2, Phase 3
39 Vitamins Phase 2, Phase 3
40 Vitamin B Complex Phase 2, Phase 3
41 Folate Phase 2, Phase 3
42 Vitamin B12 Phase 2, Phase 3
43 Vitamin B 12 Phase 2, Phase 3
44 taxane Phase 3
45 Potassium Channel Blockers Phase 2, Phase 3
46 Anticonvulsants Phase 2, Phase 3
47 Neurotransmitter Agents Phase 2, Phase 3
48 Excitatory Amino Acid Antagonists Phase 2, Phase 3
49 Neuroprotective Agents Phase 2, Phase 3
50 Testosterone 17 beta-cypionate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 335)
# Name Status NCT ID Phase Drugs
1 Mechanisms of Low Protein Diet Supplemented With α-ketoacids on Autophagy and Improving Muscle Wasting in Chronic Kidney Disease: the Role of Autophagy in Muscle Wasting Unknown status NCT02568020 Phase 4 keto-amino acids
2 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
3 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy in Thai Patients Completed NCT00851461 Phase 4 Goserelin
4 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
5 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
6 A Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec Recruiting NCT04488133 Phase 4 Nusinersen
7 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
8 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Enrolling by invitation NCT04042025 Phase 4
9 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
10 Clinical Multicenter, Phase III, Randomized, Double-blind Study to Evaluate the Efficacy and Safety of Ibuprofen 50mg/g Gel in the Treatment of Patients With Muscle Pain, Joint, or Pain Caused by Sprains, Contusions, Tendinitis, or Myofascial Compared to Profenid ® 25mg/g. Gel Unknown status NCT01373697 Phase 3 Ibuprofen;Profenid
11 The Regulation of Skeletal Muscle Protein Synthesis by Systemic Hormones and Its Influence on Ageing and Anabolic Resistance Unknown status NCT03054168 Phase 3 Sustanon 250;Zoladex
12 Strategies to Reduce Organic Muscle Atrophy in the Intensive Care Unit (STROMA-ICU) Unknown status NCT02773771 Phase 2, Phase 3
13 The Effects of Acute Testosterone Administration in Men on Muscle Mass, Strength, and Physical Function Following ACL Reconstructive Surgery Unknown status NCT01595581 Phase 3 Testosterone;Saline
14 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
15 Phase III, Randomized, Double-Blind, Placebo-Controlled Study of the Effect of GTx-024 on Muscle Wasting in Patients With Non-Small Cell Lung Cancer on First Line Platinum Plus a Non-Taxane Chemotherapy Completed NCT01355497 Phase 3 GTx-024;placebo
16 Phase III, Randomized, Double-Blind, Placebo Controlled Study of the Effect of GTx-024 on Muscle Wasting in Patients With Non-Small Cell Lung Cancer on First Line Platinum Plus a Taxane Chemotherapy Completed NCT01355484 Phase 3 GTx-024;placebo
17 A Phase 3, Randomized, Double-blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients With Later-onset Spinal Muscular Atrophy Completed NCT02292537 Phase 3 Nusinersen
18 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
19 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Completed NCT03461289 Phase 3
20 Columbia SMA Project: 4-AP as a Potential SMA Therapeutic Agent and Biological Mechanisms of Action Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
21 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Completed NCT03306277 Phase 3
22 Multicentric, Randomized, Double-blind Study Versus Placebo, With Two Parallel Groups Treated to Evaluate the Efficacy and the Tolerance of Riluzole in Children and Young Adults (6 to 20 Years of Age) With SMA. (Type II and Type III) Completed NCT00774423 Phase 2, Phase 3 Riluzole
23 Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Recruiting NCT04089566 Phase 2, Phase 3 Nusinersen
24 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Active, not recruiting NCT03837184 Phase 3
25 An Open-Label Extension Study for Patients With Spinal Muscular Atrophy Who Previously Participated in Investigational Studies of ISIS 396443 Active, not recruiting NCT02594124 Phase 3 nusinersen
26 A Global Study of a Single, One-Time Dose of AVXS-101 Delivered to Infants With Genetically Diagnosed and Pre-symptomatic Spinal Muscular Atrophy With Multiple Copies of SMN2 Active, not recruiting NCT03505099 Phase 3
27 A Two Part Seamless, Open-label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type 1 Spinal Muscular Atrophy Active, not recruiting NCT02913482 Phase 2, Phase 3 Risdiplam
28 A Two Part Seamless, Multi-Center Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam (RO7034067) in Type 2 and 3 Spinal Muscular Atrophy Patients Active, not recruiting NCT02908685 Phase 2, Phase 3 Placebo;Risdiplam
29 Use of Testosterone to Prevent Post-Surgical Muscle Loss - Pilot Study Enrolling by invitation NCT04456530 Phase 2, Phase 3 Aveed 750 MG in 3 ML IM Injection
30 A Long-Term Extension Study of Nusinersen (BIIB058) Administered at Higher Doses in Participants With Spinal Muscular Atrophy Who Previously Participated in an Investigational Study With Nusinersen Not yet recruiting NCT04729907 Phase 3 Nusinersen
31 A Phase 3, Randomized, Double-Blind, Sham-Procedure Controlled Study to Assess the Clinical Efficacy and Safety of ISIS 396443 Administered Intrathecally in Patients With Infantile-onset Spinal Muscular Atrophy Terminated NCT02193074 Phase 3 nusinersen
32 The Effectiveness of Allogeneic Adipose Derived Mesenchymal Stem Cells (ADMSCs) in the Phenotypic Changes of Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
33 Autologous Purified Bone-Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Unknown status NCT03067857 Phase 1, Phase 2
34 Safety and Efficacy Study of Anti-cholinesterase Therapy on the Motor Functions in Patients With Spinal Muscular Atrophy Type 3. Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
35 A 24-week Double-blind Treatment and 24-week Follow-up, Randomized, Multicenter, Placebo-controlled, Phase IIa/IIb Study to Evaluate Safety and Efficacy of i.v. Bimagrumab on Total Lean Body Mass and Physical Performance in Patients After Surgical Treatment of Hip Fracture Completed NCT02152761 Phase 2 bimagrumab
36 Effect of N-Acetylcysteine on Skeletal Muscle in Cachectic Cancer Patients Undergoing a Resistance Training Program (Phase 2 Study) Completed NCT00196885 Phase 2 N-acetylcysteine
37 Double-Blind, Placebo-Controlled, Dose-Finding Study of the Effect of GTx-024 on Muscle Wasting (Cachexia) in Patients With Cancer Completed NCT00467844 Phase 2 GTx-024;GTx-024;Placebo
38 A Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of Multiple Doses of ISIS 396443 Delivered Intrathecally to Patients With Infantile-Onset Spinal Muscular Atrophy Completed NCT01839656 Phase 2 nusinersen
39 A Randomized, Placebo-Controlled, Crossover Study to Evaluate the Safety and Efficacy of Amifampridine Phosphate in Ambulatory Patients With Spinal Muscular Atrophy (SMA) Type 3 Completed NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
40 A Pilot Trial of Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
41 Prospective Controlled Trial of Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy (VALIANTSMA) Study Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
42 Multi-center Phase II Trial of Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy (SMA CARNI-VAL Trial) Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
43 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
44 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Completed NCT00568802 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
45 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
46 Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I) Completed NCT00661453 Phase 1, Phase 2 Valproic Acid and Levocarnitine
47 Phase II, Multicenter, Randomized, Adaptive, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Year Old Spinal Muscular Atrophy (SMA) Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
48 A Phase II, Mono-center, Placebo-controlled, Double-blind, Crossover Trial to Investigate Effect and Efficacy of Pyridostigmine in Dutch Patients With Spinal Muscular Atrophy Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
49 An Open-Label, Dose Escalation Study to Assess the Safety, Tolerability and Dose-Range Finding of Multiple Doses of ISIS 396443 Delivered Intrathecally to Patients With Spinal Muscular Atrophy Completed NCT01703988 Phase 1, Phase 2 Nusinersen
50 A Phase 2, Double-Blind, Randomized, Placebo-Controlled, Multiple Dose Study of CK-2127107 in Two Ascending Dose Cohorts of Patients With Spinal Muscular Atrophy Completed NCT02644668 Phase 2 Placebo;Reldesemtiv 150 mg;Reldesemtiv 450 mg

Search NIH Clinical Center for Muscular Atrophy

Cochrane evidence based reviews: muscular atrophy

Genetic Tests for Muscular Atrophy

Anatomical Context for Muscular Atrophy

MalaCards organs/tissues related to Muscular Atrophy:

40
Skeletal Muscle, Spinal Cord, Kidney, Bone, Skin, Liver, Heart

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 13174)
# Title Authors PMID Year
1
"Suddenly we have hope that there is a future": two families' narratives when a child with spinal muscular atrophy receives a new drug. 61
33789523 2021
2
Axonal mRNA localization and local translation in neurodegenerative disease. 61
33642365 2021
3
Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy. 61
33642371 2021
4
Transferrin receptor 1 plays an important role in muscle development and denervation-induced muscular atrophy. 61
33318410 2021
5
Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec. 61
33768131 2021
6
Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS. 61
33738134 2021
7
Reduced sarcoplasmic reticulum Ca2+ ATPase activity underlies skeletal muscle wasting in asthma. 61
33675897 2021
8
Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review. 61
33452688 2021
9
From bench to bedside: updates in basic science, translational and clinical research on muscle fatigue in cancer cachexia. 61
33560743 2021
10
Prevalence of long-term mechanical insufflation-exsufflation in children with neurological conditions: a population-based study. 61
33393110 2021
11
New insights into muscle function in chronic kidney disease and metabolic acidosis. 61
33767065 2021
12
Reduced RECK levels accelerate skeletal muscle differentiation, improve muscle regeneration, and decrease fibrosis. 61
33811686 2021
13
Ultra-low radiation dose protocol for CT-guided intrathecal nusinersen injections for patients with spinal muscular atrophy and severe scoliosis. 61
33512541 2021
14
Sarcopenia: An underlying treatment target during the COVID-19 pandemic. 61
33421827 2021
15
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. 61
33220101 2021
16
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. 61
33743238 2021
17
Treatment of neglected quadriceps tendon ruptures using LARS™ ligament augmentation: A case series. 61
33665326 2021
18
Chrysanthemum zawadskil Herbich attenuates dexamethasone-induced muscle atrophy through the regulation of proteostasis and mitochondrial function. 61
33485066 2021
19
Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit. 61
33795885 2021
20
U7 snRNA: A tool for gene therapy. 61
33590603 2021
21
Simvastatin Enhances Muscle Regeneration Through Autophagic Defect-Mediated Inflammation and mTOR Activation in G93ASOD1 Mice. 61
33222146 2021
22
Sleep disordered breathing: Assessment and therapy in the age of emerging neuromuscular therapies. 61
32720756 2021
23
A review of the effects and molecular mechanisms of dimethylcurcumin (ASC-J9) on androgen receptor-related diseases. 61
33277796 2021
24
Spinal Muscular Atrophy: In the Challenge Lies a Solution. 61
33423791 2021
25
Quantification of disease progression in spinal muscular atrophy with muscle MRI-a pilot study. 61
33480130 2021
26
The respiratory impact of novel therapies for spinal muscular atrophy. 61
33098622 2021
27
Gene therapy for spinal muscular atrophy: hope and caution. 61
33743228 2021
28
Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series. 61
33259859 2021
29
Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes. 61
33412266 2021
30
Ultrasound Measurement of Septic Shock-induced Acute Skeletal Muscle Atrophy in Intensive Care Unit. 61
32418351 2021
31
Intrinsic peripheral nerve and root tumor and pseudotumoral lesions at a tertiary care pediatric hospital. 61
33404726 2021
32
Immortalized Canine Dystrophic Myoblast Cell Lines for Development of Peptide-Conjugated Splice-Switching Oligonucleotides. 61
33567244 2021
33
Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy. 61
33130193 2021
34
Is there a future for the use of left ventricular assist devices in Duchenne muscular dystrophy? 61
33245216 2021
35
Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy. 61
32886442 2021
36
MOTS-c reduces myostatin and muscle atrophy signaling. 61
33554779 2021
37
The impact of skeletal muscle wasting during neoadjuvant chemotherapy on postoperative anastomotic leakage in patients with esophageal cancer. 61
32889673 2021
38
Risdiplam in Type 1 Spinal Muscular Atrophy. 61
33626251 2021
39
Persistent Pseudomonas aeruginosa infection associated with non-invasive ventilation in a child with spinal muscular atrophy type 1. 61
33206041 2021
40
Targeting RNA with small molecules: from fundamental principles towards the clinic. 61
33458725 2021
41
[A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy]. 61
33762496 2021
42
Clinical Significance of TNFRSF1A36T/C Polymorphism in Cachectic Patients with Chronic Heart Failure. 61
33807923 2021
43
Advanced cancer is also a heart failure syndrome: a hypothesis. 61
33734609 2021
44
The value of spot urinary creatinine as a marker of muscle wasting in patients with new-onset or worsening heart failure. 61
33742549 2021
45
Bioinformatic analysis of SMN1-ACE/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury. 61
33190150 2021
46
The impact of scoliosis surgery on pulmonary function in spinal muscular atrophy: a systematic review. 61
33683640 2021
47
Evolving Surgical Management for Early-Onset Scoliosis in Spinal Muscular Atrophy Type 1 Given Improvements in Survival. 61
33755639 2021
48
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen. 61
33711792 2021
49
Prognostic factors and treatment-effect modifiers in spinal muscular atrophy. 61
33792051 2021
50
Impact of growth friendly interventions on spine and pulmonary outcomes of patients with spinal muscular atrophy. 61
32809150 2021

Variations for Muscular Atrophy

ClinVar genetic disease variations for Muscular Atrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMCHD1 NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs) Microsatellite Pathogenic 992817 GRCh37: 18:2743783-2743784
GRCh38: 18:2743785-2743786
2 ATP2B3 NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn) SNV Pathogenic 242886 rs782596945 GRCh37: X:152845687-152845687
GRCh38: X:153580229-153580229
3 BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) Deletion Likely pathogenic 422408 rs1064795760 GRCh37: 9:95481289-95481291
GRCh38: 9:92719007-92719009
4 COL6A3 NM_004369.3(COL6A3):c.8359G>A (p.Ala2787Thr) SNV Uncertain significance 288385 rs763395740 GRCh37: 2:238249200-238249200
GRCh38: 2:237340557-237340557
5 TLL2 NM_012465.4(TLL2):c.112G>C (p.Glu38Gln) SNV Uncertain significance 633779 rs1292893658 GRCh37: 10:98273331-98273331
GRCh38: 10:96513574-96513574
6 TLL2 NM_012465.4(TLL2):c.1609C>T (p.His537Tyr) SNV Uncertain significance 633780 rs1589410819 GRCh37: 10:98155061-98155061
GRCh38: 10:96395304-96395304
7 CACNA1S NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) SNV Uncertain significance 977156 GRCh37: 1:201038724-201038724
GRCh38: 1:201069596-201069596

Expression for Muscular Atrophy

Search GEO for disease gene expression data for Muscular Atrophy.

Pathways for Muscular Atrophy

GO Terms for Muscular Atrophy

Cellular components related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.23 UBA1 TRIP4 SMN2 SMN1 SERF1A PLEKHG5
2 cell projection GO:0042995 9.87 ZPR1 TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
3 nuclear body GO:0016604 9.78 TRIP4 SMN2 SMN1 IGHMBP2
4 axon GO:0030424 9.63 ZPR1 SMN2 SMN1 PLEKHG5 IGHMBP2 GARS1
5 perikaryon GO:0043204 9.56 ZPR1 SMN2 SMN1 ATP7A
6 cytoplasm GO:0005737 9.55 ZPR1 VAPB UBA1 TRIP4 SMN2 SMN1
7 Cajal body GO:0015030 9.54 ZPR1 SMN2 SMN1
8 SMN-Sm protein complex GO:0034719 9.43 SMN2 SMN1
9 SMN complex GO:0032797 9.4 SMN2 SMN1
10 Gemini of coiled bodies GO:0097504 9.13 ZPR1 SMN2 SMN1

Biological processes related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spliceosomal complex assembly GO:0000245 9.32 SMN2 SMN1
2 import into nucleus GO:0051170 9.26 SMN2 SMN1
3 intracellular estrogen receptor signaling pathway GO:0030520 9.16 TRIP4 AR
4 cellular calcium ion homeostasis GO:0006874 9.13 VAPB TRPV4 ATP2B3
5 DNA-templated transcription, termination GO:0006353 8.62 SMN2 SMN1

Molecular functions related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 ZPR1 VAPB UBA1 TRPV4 TRIP4 SMN2
2 nucleotide binding GO:0000166 9.76 UBA1 TRPV4 NAIP IGHMBP2 GARS1 DYNC1H1
3 dynein light intermediate chain binding GO:0051959 9.37 DYNC1H1 BICD2
4 nuclear receptor binding GO:0016922 9.32 TRIP4 ASAH1
5 ATP binding GO:0005524 9.28 UBA1 TRPV4 SMCHD1 NAIP IGHMBP2 GARS1
6 cation-transporting ATPase activity GO:0019829 9.26 ATP7A ATP2B3

Sources for Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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