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 72
Muscle Wasting 12 15
Skeletal Muscle Atrophy 72
Wasting - Muscle 12
Amyotrophia 12


External Ids:

Disease Ontology 12 DOID:767
MeSH 44 D009133
NCIt 50 C94834
SNOMED-CT 68 88092000
UMLS 72 C0026846 C0541794

Summaries for Muscular Atrophy

MalaCards based summary : Muscular Atrophy, also known as muscle wasting, is related to spinal muscular atrophy, distal, autosomal recessive, 1 and spinal muscular atrophy, type iv, 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), and among its related pathways/superpathways is COPI-independent Golgi-to-ER retrograde traffic. The drugs Pioglitazone and Clobetasol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and kidney, and related phenotype is 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 828)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 1 35.2 SMN2 SMN1 IGHMBP2
2 spinal muscular atrophy, type iv 35.2 VAPB SMN2 SMN1
3 spinal muscular atrophy, type ii 35.2 SMN2 SMN1 NAIP
4 spinal muscular atrophy, type iii 35.1 SMN2 SMN1 NAIP
5 progressive muscular atrophy 35.0 TRPV4 SMN2 SMN1
6 spinal muscular atrophy, type i 34.9 SMN2 SMN1 NAIP IGHMBP2
7 spinal muscular atrophy with lower extremity predominance 34.7 DYNC1H1 BICD2
8 proximal spinal muscular atrophy 34.7 SMN2 SMN1 NAIP BICD2
9 survival motor neuron spinal muscular atrophy 34.7 SMN2 SMN1 NAIP IGHMBP2
10 prenatal-onset spinal muscular atrophy with congenital bone fractures 33.6 TRIP4 ASCC1
11 neuromuscular disease 32.9 TRPV4 SMN2 SMN1 NAIP
12 motor neuron disease 32.9 VAPB SMN2 SMN1 NAIP DYNC1H1 AR
13 spinal disease 32.4 SMN2 SMN1
14 charcot-marie-tooth disease 32.4 TRPV4 PLEKHG5 IGHMBP2 DYNC1H1 DNAJB2
15 amyotrophic lateral sclerosis 1 31.8 VAPB SMN2 SMN1 NAIP DNAJB2
16 tooth disease 31.2 TRPV4 PLEKHG5 IGHMBP2 DYNC1H1
17 anterior horn cell disease 31.1 UBA1 SMN2 SMN1 IGHMBP2
18 arthrogryposis multiplex congenita, neurogenic type 30.5 SMN2 SMN1
19 congenital contractures 30.5 UBA1 TRIP4 ASCC1
20 spinal muscular atrophy 30.3 ZPR1 VAPB UBA1 TRPV4 TRIP4 SMN2
21 muscular disease 30.1 SMN2 SMN1 NAIP IGHMBP2 DYNC1H1 BICD2
22 spinal and bulbar muscular atrophy, x-linked 1 13.0
23 spinal muscular atrophy, x-linked 2 12.9
24 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.9
25 spinal muscular atrophy, late-onset, finkel type 12.8
26 spinal muscular atrophy, distal, x-linked 3 12.8
27 scapuloperoneal spinal muscular atrophy 12.8
28 spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant 12.8
29 spinal muscular atrophy with progressive myoclonic epilepsy 12.8
30 spinal muscular atrophy, distal, autosomal recessive, 3 12.7
31 spinal muscular atrophy, distal, autosomal recessive, 2 12.7
32 spinal muscular atrophy, distal, autosomal recessive, 4 12.7
33 spinal muscular atrophy, jokela type 12.7
34 spinal muscular atrophy, type i, with congenital bone fractures 12.6
35 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 12.6
36 spinal muscular atrophy, distal, autosomal recessive, 5 12.6
37 autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 12.6
38 spinal muscular atrophy with congenital bone fractures 2 12.6
39 neuronopathy, distal hereditary motor, type va 12.5
40 pelvic muscle wasting 12.5
41 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.5
42 autosomal dominant adult-onset proximal spinal muscular atrophy 12.4
43 autosomal dominant proximal spinal muscular atrophy 12.4
44 spinal muscular atrophy, ryukyuan type 12.4
45 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.4
46 spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation 12.4
47 spinal muscular atrophy with respiratory distress type 2 12.4
48 spinal muscular atrophy, facioscapulohumeral type 12.4
49 spinal muscular atrophy, segmental 12.4
50 spastic paraplegia 20, autosomal recessive 12.3

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 AR ATP7A DYNC1H1 IGHMBP2 PLEKHG5 SMN2

Drugs & Therapeutics for Muscular Atrophy

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

(show top 50) (show all 316)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
Fosinopril Approved Phase 4 98048-97-6 55891
Acetaminophen Approved Phase 4 103-90-2 1983
Sodium citrate Approved, Investigational Phase 4 68-04-2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Serine Approved, Nutraceutical Phase 4 56-45-1 5951
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 Neurotransmitter Agents Phase 4
16 Anticonvulsants Phase 4
17 Excitatory Amino Acid Antagonists Phase 4
18 Excitatory Amino Acids Phase 4
19 Angiotensin-Converting Enzyme Inhibitors Phase 4
20 Antihypertensive Agents Phase 4
21 Excitatory Amino Acid Agonists Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Antipyretics Phase 4
24 Hormones Phase 4
25 Hormone Antagonists Phase 4
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
27 glucocorticoids Phase 4
28 Antineoplastic Agents, Hormonal Phase 4
29 Peripheral Nervous System Agents Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Protective Agents Phase 4
32 Neuroprotective Agents Phase 4
33 Sildenafil Citrate Phase 4 171599-83-0
34 Citrate Phase 4
35 Phosphodiesterase Inhibitors Phase 4
36 Phosphodiesterase 5 Inhibitors Phase 4
37 Vasodilator Agents Phase 4
38 Gastrointestinal Agents Phase 4
39 Autonomic Agents Phase 4
40 Antiemetics Phase 4
41 Prednisolone acetate Phase 4
42 Methylprednisolone Acetate Phase 4
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, Experimental, Investigational Phase 2, Phase 3 13422-55-4
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 15589840
Metformin Approved Phase 2, Phase 3 657-24-9 4091 14219
Miglustat Approved Phase 3 72599-27-0 51634
Goserelin Approved Phase 3 65807-02-5, 1233494-97-7 47725 5311128

Interventional clinical trials:

(show top 50) (show all 533)
# 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 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 Not yet recruiting 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 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
26 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
27 A Randomized, Double-Blind, Placebo-Controlled Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
28 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
29 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
30 Metabolism and Oxygen Consumption During Functional Electrical Stimulation Cycling in COPD Completed NCT02594722 Phase 3
31 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
32 The Augmented Versus Routine Approach to Giving Energy Trial: A Randomised Controlled Trial Completed NCT02306746 Phase 3
33 Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength Completed NCT00813189 Phase 3
34 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
35 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 Recruiting NCT03505099 Phase 3
36 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
37 Mechanisms of Improved Wound Healing and Protein Synthesis of Insulin and Metformin Recruiting NCT01666665 Phase 2, Phase 3 Metformin;Sugar pill
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 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
40 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
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 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 NCT03306277 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 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
50 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea

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, Bone, Lung

Publications for Muscular Atrophy

Articles related to Muscular Atrophy:

(show top 50) (show all 11634)
# Title Authors PMID Year
Efficacy of preoperative amino acid supplements on postoperative physical function and complications in open heart surgery patients: A study protocol for a randomized controlled trial. 38
31000320 2019
Advances in management of chronic metabolic acidosis in chronic kidney disease. 38
31232712 2019
Severe brain involvement in 5q spinal muscular atrophy type 0. 38
31301241 2019
A randomized controlled trial of exercise to prevent muscle mass and functional loss in elderly hemodialysis patients: Rationale, study design, and baseline sample. 38
31193611 2019
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data. 38
31228281 2019
NFL is a marker of treatment response in children with SMA treated with nusinersen. 38
31123861 2019
Applying Deep Neural Network Analysis to High-Content Image-Based Assays. 38
31284814 2019
Pharmacological management of cardiac cachexia: a review of potential therapy options. 38
30923991 2019
In vivo assembly of eukaryotic signal recognition particle: A still enigmatic process involving the SMN complex. 38
30978374 2019
A Novel Pharyngeal Clearance Maneuver for Initial Tracheostomy Tube Cuff Deflation in High Cervical Tetraplegia. 38
30973517 2019
Central nervous system abnormalities in spinal and bulbar muscular atrophy (Kennedy's disease). 38
31351215 2019
Muscle derangement and alteration of the nutritional machinery in NSCLC. 38
31228648 2019
Single muscle fibre biomechanics and biomechatronics - The challenges, the pitfalls and the future. 38
31255723 2019
Reduced sucrose nonfermenting AMPK-related kinase (SNARK) activity aggravates cancer-induced skeletal muscle wasting. 38
31387190 2019
Walk the Line: The Role of Ubiquitin in Regulating Transcription in Myocytes. 38
31389777 2019
Mitochondrial dysfunction causes Ca2+ overload and ECM degradation-mediated muscle damage in C. elegans. 38
31162948 2019
Emerging proteomic biomarkers of X-linked muscular dystrophy. 38
31359811 2019
Omentum acts as a regulatory organ controlling skeletal muscle repair of mdx mice diaphragm. 38
30953145 2019
[Gene therapies for neuromuscular diseases]. 38
31286145 2019
Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1. 38
31256932 2019
A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene. 38
31341277 2019
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. 38
31102495 2019
Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy. 38
31292223 2019
Carrier frequency of spinal muscular atrophy in Thailand. 38
31004230 2019
Spinal Muscular Atrophy: Past, Present, and Future. 38
31371553 2019
Spinal bracing and lung function in type-2 spinal muscular atrophy. 38
29687968 2019
The Complex Spine in Children with Spinal Muscular Atrophy: The Transforaminal Approach-A Transformative Technique. 38
31296522 2019
The role of the musculoskeletal system in post-burn hypermetabolism. 38
31181216 2019
Therapeutic glucocorticoids prevent bone loss but drive muscle wasting when administered in chronic polyarthritis. 38
31370858 2019
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. 38
31402618 2019
An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials. 38
31420846 2019
Serum Level of Musclin Is Elevated Following Severe Burn. 38
31187123 2019
Reduced lung cancer burden by selective immunomodulators elicits improvements in muscle proteolysis and strength in cachectic mice. 38
30851071 2019
Role of mTORC1 in mechanically induced increases in translation and skeletal muscle mass. 38
30676865 2019
Morphological alterations of mouse skeletal muscles during early ageing are muscle specific. 38
31400439 2019
Nutrition in Cancer Patients. 38
31416154 2019
Fibroblast growth factor 21 in patients with cardiac cachexia: a possible role of chronic inflammation. 38
31429530 2019
New evidence of exercise training benefits in myostatin-deficient mice: Effect on lipidomic abnormalities. 38
31200956 2019
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family. 38
31069783 2019
Mitochondrial metabolism in cancer cachexia: Novel drug target. 38
31418657 2019
Effect of Nusinersen on Respiratory Muscle Function in Different Subtypes of Type 1 Spinal Muscular Atrophy. 38
31433957 2019
Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review. 38
31388901 2019
Economic burden of spinal muscular atrophy in the United States: a contemporary assessment. 38
31322019 2019
Pathologic Alterations in the Proteome of Synaptosomes from a Mouse Model of Spinal Muscular Atrophy. 38
31262178 2019
Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA. 38
31127278 2019
Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy. 38
31397869 2019
Matrine improves skeletal muscle atrophy by inhibiting E3 ubiquitin ligases and activating the Akt/mTOR/FoxO3α signaling pathway in C2C12 myotubes and mice. 38
31233199 2019
From the Archives Muscular atrophy, after measles, in three members of a family. By J.A. Ormerod, M.D. Brain (October) 1884; 7 (part XXVII): 334-342; with The peroneal type of progressive muscular atrophy. By Howard H. Tooth, M.A, M.D., M.R.C.P (H.K Lewis, London). 1886; pages 44: with Critical Digests. Recent observations on progressive muscular atrophy. By H. H. Tooth, M.D. Brain (July) 1887; 10 (part XXXVIII): 243-253; with The peroneal form or leg-type of progressive muscular atrophy. By B. Sachs, M.D. (New York). Professor of Mental and Nervous Diseases in the New York Polyclinic, Brain 1890; 12: 447-459. 38
31292617 2019
Long-term Effects of Androgen Deprivation in a Patient with Spinal and Bulbar Muscular Atrophy - A Case Report with 14 Years of Follow-up. 38
30996158 2019
The value of different CT-based methods for diagnosing low muscle mass and predicting mortality in patients with cirrhosis. 38
31421002 2019

Variations for Muscular Atrophy

ClinVar genetic disease variations for Muscular Atrophy:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP2B3 NM_001001344.2(ATP2B3): c.3594G> T (p.Lys1198Asn) single nucleotide variant Pathogenic rs782596945 X:152845687-152845687 X:153580229-153580229
2 BICD2 NM_001003800.2(BICD2): c.1636_1638del (p.Asn546del) deletion Likely pathogenic rs1064795760 9:95481289-95481291 9:92719007-92719009
3 COL6A3 NM_004369.3(COL6A3): c.8359G> A (p.Ala2787Thr) single nucleotide variant Uncertain significance 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

Pathways related to Muscular Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.07 DYNC1H1 BICD2

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 cell projection GO:0042995 9.85 ZPR1 TRPV4 SMN2 SMN1 PLEKHG5 IGHMBP2
2 growth cone GO:0030426 9.61 ZPR1 TRPV4 IGHMBP2
3 perikaryon GO:0043204 9.46 ZPR1 SMN2 SMN1 ATP7A
4 Cajal body GO:0015030 9.43 ZPR1 SMN2 SMN1
5 SMN-Sm protein complex GO:0034719 9.4 SMN2 SMN1
6 SMN complex GO:0032797 9.13 ZPR1 SMN2 SMN1
7 Gemini of coiled bodies GO:0097504 8.8 ZPR1 SMN2 SMN1
8 cytoplasm GO:0005737 10.17 ZPR1 VAPB UBA1 TRIP4 SMN2 SMN1

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

# Name GO ID Score Top Affiliating Genes
1 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.37 ATP7A ATP2B3
2 spliceosomal snRNP assembly GO:0000387 9.32 SMN2 SMN1
3 spliceosomal complex assembly GO:0000245 9.26 SMN2 SMN1
4 import into nucleus GO:0051170 9.16 SMN2 SMN1
5 cellular calcium ion homeostasis GO:0006874 9.13 VAPB TRPV4 ATP2B3
6 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 9.86 ZPR1 VAPB UBA1 TRPV4 TRIP4 SMN2
2 ATP binding GO:0005524 9.17 UBA1 TRPV4 NAIP IGHMBP2 DYNC1H1 ATP7A
3 dynein light intermediate chain binding GO:0051959 9.16 DYNC1H1 BICD2

Sources for Muscular Atrophy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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