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 43 15 71
Muscle Wasting 12 15
Skeletal Muscle Atrophy 71
Wasting - Muscle 12
Amyotrophia 12


External Ids:

Disease Ontology 12 DOID:767
MeSH 43 D009133
NCIt 49 C94834
SNOMED-CT 67 88092000
UMLS 71 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, distal, autosomal recessive, 1, and has symptoms including muscle weakness, myokymia and muscular fasciculation. An important gene associated with Muscular Atrophy is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3). The drugs Pioglitazone and Clobetasol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and kidney, and related phenotypes are Decreased viability and Decreased viability

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 842)
# Related Disease Score Top Affiliating Genes
1 spinal and bulbar muscular atrophy, x-linked 1 35.3 SMN2 SMN1 AR
2 spinal muscular atrophy, distal, autosomal recessive, 1 35.3 SMN2 SMN1 IGHMBP2 GARS1
3 spinal muscular atrophy, type iv 35.3 SMN2 SMN1 NAIP
4 spinal muscular atrophy, type ii 35.2 SMN2 SMN1 NAIP IGHMBP2 BICD2
5 spinal muscular atrophy with progressive myoclonic epilepsy 35.1 SMN2 SMN1 ASAH1
6 scapuloperoneal spinal muscular atrophy 35.1 TRPV4 IGHMBP2 GARS1 BICD2
7 spinal muscular atrophy, type iii 35.1 SMN2 SMN1 SERF1A NAIP IGHMBP2
8 progressive muscular atrophy 35.1 VAPB TRPV4 SMN2 SMN1
9 spinal muscular atrophy, distal, autosomal recessive, 2 35.0 TRPV4 GARS1 BICD2
10 spinal muscular atrophy, type i 34.9 ZPR1 VRK1 SMN2 SMN1 SERF1A NAIP
11 proximal spinal muscular atrophy 34.9 VAPB SMN2 SMN1 NAIP BICD2
12 spinal muscular atrophy with lower extremity predominance 34.9 VAPB IGHMBP2 GARS1 DYNC1H1 BICD2
13 childhood spinal muscular atrophy 34.7 SMN2 SMN1 SERF1A NAIP IGHMBP2 BICD2
14 neuronopathy, distal hereditary motor, type va 34.6 SMN2 SMN1 IGHMBP2 GARS1 DNAJB2
15 spinal muscular atrophy 34.2 ZPR1 VRK1 VAPB UBA1 TRPV4 TRIP4
16 autosomal dominant distal hereditary motor neuronopathy 33.9 TRPV4 IGHMBP2 GARS1 DYNC1H1 BICD2
17 charcot-marie-tooth hereditary neuropathy 33.8 TRPV4 IGHMBP2 GARS1
18 autosomal recessive distal hereditary motor neuronopathy 33.7 SMN2 SMN1 IGHMBP2 GARS1 ATP7A
19 motor neuron disease 33.4 VAPB TRPV4 SMN2 SMN1 PLEKHG5 NAIP
20 neuronopathy, distal hereditary motor, type viib 33.4 DYNC1H1 AR
21 distal hereditary motor neuropathies 33.2 TRPV4 IGHMBP2 GARS1
22 neuromuscular disease 33.0 TRPV4 SMN2 SMN1 NAIP IGHMBP2 GARS1
23 spinal disease 32.9 SMN2 SMN1 NAIP AR
24 charcot-marie-tooth disease 32.8 VAPB TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
25 motor peripheral neuropathy 32.5 TRPV4 IGHMBP2 GARS1 DYNC1H1 DNAJB2 BICD2
26 neuronopathy, distal hereditary motor, type iib 32.5 IGHMBP2 GARS1
27 amyotrophic lateral sclerosis 1 32.4 VAPB TRIP4 SMN2 SMN1 NAIP IGHMBP2
28 neuropathy 31.7 TRPV4 IGHMBP2 GARS1 DYNC1H1
29 tooth disease 31.7 TRPV4 PLEKHG5 IGHMBP2 GARS1 DYNC1H1
30 juvenile amyotrophic lateral sclerosis 31.6 VRK1 PLEKHG5
31 congenital contractures 31.3 VRK1 UBA1 TRIP4
32 anterior horn cell disease 31.3 VRK1 UBA1 SMN2 SMN1 IGHMBP2
33 peripheral nervous system disease 31.2 TRPV4 SMN2 SMN1 GARS1
34 axonal neuropathy 31.2 VRK1 TRPV4 GARS1
35 genetic motor neuron disease 31.0 TRPV4 PLEKHG5 GARS1 DYNC1H1
36 myopathy 30.9 SMN1 IGHMBP2 DYNC1H1 BICD2 ATP7A AR
37 hereditary motor and sensory neuropathy, type iic 30.4 TRPV4 GARS1
38 spinal muscular atrophy, x-linked 2 12.9
39 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.9
40 spinal muscular atrophy, distal, x-linked 3 12.8
41 spinal muscular atrophy, late-onset, finkel type 12.8
42 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 12.8
43 spinal muscular atrophy, distal, autosomal recessive, 3 12.8
44 spinal muscular atrophy, distal, autosomal recessive, 4 12.7
45 spinal muscular atrophy with congenital bone fractures 1 12.7
46 spinal muscular atrophy, jokela type 12.7
47 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 12.7
48 spinal muscular atrophy with congenital bone fractures 2 12.6
49 spinal muscular atrophy, distal, autosomal recessive, 5 12.6
50 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 12.6

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

GenomeRNAi Phenotypes related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.6 VRK1
2 Decreased viability GR00221-A-2 9.6 VRK1
3 Decreased viability GR00221-A-4 9.6 VRK1
4 Decreased viability GR00240-S-1 9.6 ASAH1 SMN2
5 Decreased viability GR00249-S 9.6 ATP7A NAIP TRPV4
6 Decreased viability GR00301-A 9.6 VRK1
7 Decreased viability GR00381-A-1 9.6 ASAH1 UBA1
8 Decreased viability GR00386-A-1 9.6 ASAH1 ATP2B3 ATP7A NAIP
9 Decreased viability GR00402-S-2 9.6 GARS1 UBA1 VAPB ZPR1

MGI Mouse Phenotypes related to Muscular Atrophy:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AR ASAH1 ATP2B3 ATP7A BICD2 DNAJB2
2 muscle MP:0005369 9.32 AR ASAH1 ATP7A DYNC1H1 GARS1 IGHMBP2

Drugs & Therapeutics for Muscular Atrophy

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

(show top 50) (show all 258)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
Fosinopril Approved Phase 4 98048-97-6 55891
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
Acetaminophen Approved Phase 4 103-90-2 1983
Sodium citrate Approved, Investigational Phase 4 68-04-2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
15 Anticonvulsants Phase 4
16 Neurotransmitter Agents Phase 4
17 Antihypertensive Agents Phase 4
18 Angiotensin-Converting Enzyme Inhibitors Phase 4
protease inhibitors Phase 4
20 HIV Protease Inhibitors Phase 4
21 Excitatory Amino Acid Antagonists Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Antipyretics Phase 4
24 glucocorticoids Phase 4
25 Protective Agents Phase 4
26 Antineoplastic Agents, Hormonal Phase 4
27 Hormones Phase 4
28 Hormone Antagonists Phase 4
29 Anti-Inflammatory Agents Phase 4
30 Neuroprotective Agents Phase 4
31 Citrate Phase 4
32 Phosphodiesterase Inhibitors Phase 4
33 Phosphodiesterase 5 Inhibitors Phase 4
34 Vasodilator Agents Phase 4
35 Sildenafil Citrate Phase 4 171599-83-0
36 Gastrointestinal Agents Phase 4
37 Methylprednisolone Acetate Phase 4
38 Antiemetics Phase 4
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
Ketoprofen Approved, Vet_approved Phase 3 22071-15-4 3825
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 11953898
Miglustat Approved Phase 3 72599-27-0 51634
Goserelin Approved Phase 3 65807-02-5 5311128 47725
Testosterone Approved, Experimental, Investigational Phase 2, Phase 3 58-22-0, 481-30-1 10204 6013
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010

Interventional clinical trials:

(show top 50) (show all 587)
# 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 Effects of Pioglitazone on Body Composition,Insulin Sensitivity and Protein Metabolism in ESRD Non Diabetic Individuals Unknown status NCT01253928 Phase 4 Pioglitazone
3 Evaluation of Fluid Retention Due to Superpotent Topical Corticosteroid in Patients With Bullous Pemphigoid Unknown status NCT02360202 Phase 4 Clobetasol Propionate cream treatment
4 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy in Thai Patients Completed NCT00851461 Phase 4 Goserelin
5 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
6 Electromagnetic Interference by Transcutaneous Neuromuscular Electrical Stimulation in Patients With Optimizer(R) - a Pilot Safety Study Completed NCT02692690 Phase 4
7 ACE-inhibition and Mechanisms of Skeletal Muscle Weakness in Chronic Obstructive Pulmonary Disease Completed NCT01014338 Phase 4 Fosinopril
8 Study of The Effects of Testosterone on Muscle Function, Physical Performance, Body Composition and Quality of Life in Frail Elderly Men Completed NCT00190060 Phase 4 Transdermal testosterone gel (Testogel 1% );Matched transdermal placebo gel
9 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
10 Effect of the Proteins of the Diet in Patients With Cirrhosis and a Prior Episode of Hepatic Encephalopathy. A Randomized Study Completed NCT00955500 Phase 4
11 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
12 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
13 RolE of AST120 in sarCOpenia preVEntion in pRe-dialYsis Chronic Kidney Disease Patients (RECOVERY): Prospective Open-label Randomized Controlled Multicenter Study Active, not recruiting NCT03788252 Phase 4 Renamezin
14 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
15 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
16 Strategies to Reduce Organic Muscle Atrophy in the Intensive Care Unit (STROMA-ICU) Unknown status NCT02773771 Phase 2, Phase 3
17 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
18 Effect of High Dose Vitamin D3 Supplementation on Skeletal Muscle Mass and Body Compositions in Critically Ill Patients With Vitamin D Deficiency Unknown status NCT02594579 Phase 3 Vitamin D3;Placebo
19 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
20 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
21 Effects of Short-chain Fatty Acids, Here Sodium Propionate, a Metabolism Product of the Human Gut-microbiome, on Inflammatory and Metabolic Parameters in Patients on Maintenance Hemodialysis - a Pilot Study Unknown status NCT02976688 Phase 2, Phase 3
22 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
23 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
24 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
25 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
26 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
27 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
28 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
29 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
30 Metabolism and Oxygen Consumption During Functional Electrical Stimulation Cycling in COPD Completed NCT02594722 Phase 3
31 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
32 A Randomized, Double-blind, Placebo-controlled, Multicenter, Parallel Group, Dose-finding, Pivotal, Phase 2b/3 Study to Evaluate the Efficacy, Safety, and Tolerability of Intravenous BYM338 at 52 Weeks on Physical Function, Muscle Strength, and Mobility and Additional Long Term Safety up to 2 Years in Patients With Sporadic Inclusion Body Myositis Completed NCT01925209 Phase 2, Phase 3 BYM338/bimagrumab;Placebo
33 Extension of the CBYM338B2203 Phase IIb/III Study to Evaluate the Long-term Efficacy, Safety and Tolerability of Intravenous BYM338 in Patients With Sporadic Inclusion Body Myositis Completed NCT02573467 Phase 3 Bimagrumab;Placebo
34 Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength Completed NCT00813189 Phase 3
35 The Augmented Versus Routine Approach to Giving Energy Trial: A Randomised Controlled Trial Completed NCT02306746 Phase 3
36 Escalating Dose and Randomized, Controlled Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Recruiting NCT04089566 Phase 2, Phase 3 Nusinersen
37 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 Recruiting NCT03837184 Phase 3
38 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
39 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
40 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
41 A Two Part Seamless, Multi-Center Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Patients Active, not recruiting NCT02908685 Phase 2, Phase 3 Placebo;Risdiplam
42 The Regulation of Skeletal Muscle Protein Synthesis by Systemic Hormones and Its Influence on Ageing and Anabolic Resistance Active, not recruiting NCT03054168 Phase 3 Sustanon 250;Zoladex
43 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
44 European, 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 NCT03461289 Phase 3
45 Growth Hormone Therapy for Muscle Regeneration in Severely Burned Patients Active, not recruiting NCT03038594 Phase 2, Phase 3 Somatropin;0.09% Saline Solution
46 Cycled Testosterone Administration During Pulmonary Rehabilitation in Early Stage COPD Not yet recruiting NCT03674320 Phase 2, Phase 3 Testosterone Enanthate;Placebo
47 Efficacy of Coenzyme Q10 Supplementation on Multi-Organ Dysfunction in Severely Burned Patients Not yet recruiting NCT03968640 Phase 3
48 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
49 Mechanisms of Improved Wound Healing and Protein Synthesis of Insulin and Metformin Terminated NCT01666665 Phase 2, Phase 3 Metformin;Sugar pill
50 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

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:

Skeletal Muscle, Heart, Kidney, Testes, Spinal Cord, Lung, Bone

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 12383)
# Title Authors PMID Year
Is inflammatory signaling involved in disease-related muscle wasting? Evidence from osteoarthritis, chronic obstructive pulmonary disease and type II diabetes. 61
32407865 2020
A survey of transcripts generated by spinal muscular atrophy genes. 61
32387331 2020
Macrophages potentiate STAT3 signaling in skeletal muscles and regulate pancreatic cancer cachexia. 61
32344015 2020
Redox modulation of muscle mass and function. 61
32371010 2020
Molecular inversion probe-rolling circle amplification with single-strand poly-T luminescent copper nanoclusters for fluorescent detection of single-nucleotide variant of SMN gene in diagnosis of spinal muscular atrophy. 61
32507240 2020
Quantifying skeletal muscle wasting during chemoradiotherapy with Jacobian calculations for the prediction of survival and toxicity in patients with gastric cancer. 61
32307187 2020
Sarcopenia and Cardiac Dysfunction. 61
31868771 2020
Smaller Left Ventricle Size at Noncontrast CT Is Associated with Lower Mortality in COPDGene Participants. 61
32368963 2020
First case of a dog infected with Aspergillus (Phialosimplex) caninus in Australasia. 61
31852374 2020
Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population. 61
32067433 2020
Computed-tomography-guided transforaminal intrathecal nusinersen injection in adults with spinal muscular atrophy type 2 and severe spinal deformity. Feasibility, safety and radiation exposure considerations. 61
32250518 2020
Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy. 61
32394611 2020
Spinal muscular atrophy care in the COVID-19 pandemic era. 61
32329921 2020
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons. 61
32437855 2020
Molecular analysis and clinical diversity of distal hereditary motor neuropathy. 61
32298515 2020
Multiple MuSK signaling pathways and the aging neuromuscular junction. 61
32353380 2020
Superiority of sonographic evaluation of contracted versus relaxed muscle thickness in motor neuron diseases. 61
32387966 2020
Clinical spectrum of BICD2 mutations. 61
32056343 2020
MEF2 impairment underlies skeletal muscle atrophy in polyglutamine disease. 61
32306066 2020
Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease? 61
32294521 2020
Early Results of a Management Algorithm for Collapsing Spine Deformity in Young Children (Below 10-Year Old) With Spinal Muscular Atrophy Type II. 61
32501901 2020
Down-Regulation of Mitochondrial Metabolism after Tendon Release Primes Lipid Accumulation in Rotator Cuff Muscle. 61
32305353 2020
Histone acetyltransferase inhibition rescues differentiation of emerin-deficient myogenic progenitors. 61
32304242 2020
Modification of Neuromuscular Junction Protein Expression by Exercise and Doxorubicin. 61
31985575 2020
Intrathecal delivery of nusinersen in individuals with complicated spines. 61
32319101 2020
Potential mechanisms of uremic muscle wasting and the protective role of the mitochondria-targeted antioxidant Mito-TEMPO. 61
32488756 2020
Serological evaluation of selected vector-borne pathogens in owned dogs from northern Spain based on a multicenter study using a commercial test. 61
32522246 2020
Parkin Overexpression Attenuates Sepsis-Induced Muscle Wasting. 61
32545383 2020
The gut microbiota attenuates muscle wasting by regulating energy metabolism in chemotherapy-induced malnutrition rats. 61
32415349 2020
Peptide-2 from mouse myostatin precursor protein alleviates muscle wasting in cancer-associated cachexia. 61
32519375 2020
32247802 2020
A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis. 61
32501131 2020
Interleukin-4 administration improves muscle function, adult myogenesis, and lifespan of colon carcinoma-bearing mice. 61
32103619 2020
TGF-β Pathway Inhibition Protects the Diaphragm From Sepsis-Induced Wasting and Weakness in Rat. 61
32413000 2020
Sarcopenia and health-related quality of life in older adults after transcatheter aortic valve replacement. 61
32416332 2020
Fam83d modulates MAP kinase and AKT signaling and is induced during neurogenic skeletal muscle atrophy. 61
32092437 2020
Recovery of muscle mass and muscle oxidative phenotype following disuse does not require GSK-3 inactivation. 61
32087280 2020
Repeated eccentric contractions positively regulate muscle oxidative metabolism and protein synthesis during cancer cachexia in mice. 61
32407241 2020
Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened? 61
32096140 2020
The value of preoperative labs in identifying "at-risk" patients for developing surgical site infections after pediatric neuromuscular spine deformity surgery. 61
31925757 2020
Effects of magnetically controlled growing rods surgery on pulmonary function in young subjects with spinal muscular atrophy type 2 and other neuromuscular scoliosis. 61
28565896 2020
Scoliosis in spinal muscular atrophy: is the preoperative magnetic resonance imaging necessary? 61
32495206 2020
Knowledge and attitudes about burn complications in medical students. 61
31694789 2020
Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec. 61
32515646 2020
The β-arrestin-biased β-adrenergic receptor blocker carvedilol enhances skeletal muscle contractility. 61
32414934 2020
Skeletal muscle adaptations to heat therapy. 61
32352340 2020
Exposure of low-concentration arsenic induces myotube atrophy by inhibiting an Akt signaling pathway. 61
32184170 2020
Human laminin-111 and laminin-211 protein therapy prevents muscle disease progression in an immunodeficient mouse model of LAMA2-CMD. 61
32498713 2020
Microvascular disease in chronic kidney disease: the base of the iceberg in cardiovascular comorbidity. 61
32542397 2020
The EX-FRAIL CKD trial: a study protocol for a pilot randomised controlled trial of a home-based EXercise programme for pre-frail and FRAIL, older adults with Chronic Kidney Disease. 61
32571859 2020

Variations for Muscular Atrophy

ClinVar genetic disease variations for Muscular Atrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP2B3 NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn)SNV Pathogenic 242886 rs782596945 X:152845687-152845687 X:153580229-153580229
2 BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)deletion Likely pathogenic 422408 rs1064795760 9:95481289-95481291 9:92719007-92719009
3 TLL2 NM_012465.4(TLL2):c.112G>C (p.Glu38Gln)SNV Uncertain significance 633779 10:98273331-98273331 10:96513574-96513574
4 TLL2 NM_012465.4(TLL2):c.1609C>T (p.His537Tyr)SNV Uncertain significance 633780 10:98155061-98155061 10:96395304-96395304
5 COL6A3 NM_004369.3(COL6A3):c.8359G>A (p.Ala2787Thr)SNV Uncertain significance 288385 rs763395740 2:238249200-238249200 2:237340557-237340557

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 10.18 VRK1 UBA1 TRIP4 SMN2 SMN1 SERF1A
2 cell GO:0005623 9.95 VAPB TRPV4 DYNC1H1 DNAJB2 ATP7A ATP2B3
3 cell projection GO:0042995 9.8 ZPR1 TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
4 axon GO:0030424 9.72 ZPR1 SMN2 SMN1 IGHMBP2 GARS1
5 Cajal body GO:0015030 9.58 ZPR1 SMN2 SMN1
6 cytoplasm GO:0005737 9.58 ZPR1 VRK1 VAPB UBA1 TRIP4 SMN2
7 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1
8 perikaryon GO:0043204 9.46 ZPR1 SMN2 SMN1 ATP7A
9 SMN complex GO:0032797 9.43 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 9.26 SMN2 SMN1
2 import into nucleus GO:0051170 9.16 SMN2 SMN1
3 cellular calcium ion homeostasis GO:0006874 9.13 VAPB TRPV4 ATP2B3
4 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 10.11 ZPR1 VRK1 VAPB UBA1 TRPV4 TRIP4
2 nucleotide binding GO:0000166 9.61 VRK1 UBA1 TRPV4 NAIP IGHMBP2 GARS1
3 ATP binding GO:0005524 9.28 VRK1 UBA1 TRPV4 NAIP IGHMBP2 GARS1
4 cation-transporting ATPase activity GO:0019829 9.26 ATP7A ATP2B3

Sources for Muscular Atrophy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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