PMA
MCID: PRG001
MIFTS: 41

Progressive Muscular Atrophy (PMA)

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

Aliases & Classifications for Progressive Muscular Atrophy

MalaCards integrated aliases for Progressive Muscular Atrophy:

Name: Progressive Muscular Atrophy 12 58 54 15 70
Progressive Spinal Muscular Atrophy 12 73 6
Pure Progressive Muscular Atrophy 12
Pma 58

Characteristics:

Orphanet epidemiological data:

58
progressive muscular atrophy
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult,elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:318
ICD9CM 34 335.21
MeSH 44 D009134
NCIt 50 C85027
SNOMED-CT 67 88923002
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 71 C0917981
Orphanet 58 ORPHA454706
UMLS 70 C0917981

Summaries for Progressive Muscular Atrophy

MalaCards based summary : Progressive Muscular Atrophy, also known as progressive spinal muscular atrophy, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Progressive Muscular Atrophy is CAPN3 (Calpain 3), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are behavior/neurological and homeostasis/metabolism

Wikipedia : 73 Progressive muscular atrophy (PMA) is a very rare subtype of motor neuron disease (MND) that affects... more...

Related Diseases for Progressive Muscular Atrophy

Diseases in the Muscular Atrophy family:

Progressive Muscular Atrophy

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

(show top 50) (show all 351)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 30.9 VAPB TRPV4 TARDBP SOD1 SMN2 SMN1
2 muscular atrophy 30.5 VAPB TRPV4 TARDBP SMN2 SMN1 PAX7
3 proximal spinal muscular atrophy 30.1 VAPB SMN2 SMN1
4 peripheral nervous system disease 29.7 TRPV4 SOD1 SMN2 SMN1 NEFH
5 myopathy 29.7 VCP TARDBP SOD1 SMN1 PAX7 CAV3
6 charcot-marie-tooth disease 29.5 VCP TRPV4 SOD1 SMN2 NEFH
7 neuromuscular disease 28.9 VCP TRPV4 TARDBP SOD1 SMN2 SMN1
8 motor neuron disease 28.6 VCP VAPB UBQLN2 TRPV4 TARDBP SOD1
9 lateral sclerosis 27.5 VCP VAPB UNC13A UBQLN2 TARDBP SOD1
10 frontotemporal dementia 27.1 VCP UNC13A UBQLN2 TARDBP SOD1 OPTN
11 amyotrophic lateral sclerosis 1 26.9 VCP VAPB UNC13A UBQLN2 TARDBP SOD1
12 adult progressive spinal muscular atrophy aran duchenne type 11.4
13 spinal atrophy ophthalmoplegia pyramidal syndrome 11.3
14 spinal muscular atrophy, type i 11.2
15 madras motor neuron disease 11.2
16 neuronopathy, distal hereditary motor, type viii 11.0
17 myopathy, distal, tateyama type 11.0
18 myopathy, congenital, progressive, with scoliosis 11.0
19 granulomatous disease, chronic, x-linked 10.9
20 poliomyelitis 10.4
21 spinal muscular atrophy type 0 10.3 SMN2 SMN1
22 limb-girdle muscular dystrophy type 1a 10.3 CAV3 CAPN3
23 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 CAV3 CAPN3
24 spinal muscular atrophy, x-linked 2 10.3 SMN2 SMN1
25 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.3 SMN2 SMN1
26 autosomal recessive limb-girdle muscular dystrophy type 2f 10.3 CAV3 CAPN3
27 autosomal recessive distal hereditary motor neuronopathy 10.2 SMN2 SMN1
28 autosomal recessive limb-girdle muscular dystrophy type 2g 10.2 CAV3 CAPN3
29 chronic inflammatory demyelinating polyneuritis 10.2 TRPV4 SMN2 SMN1
30 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 10.2 VCP FUS
31 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.2 FUS C9orf72
32 measles 10.2
33 alexia 10.2 VCP TARDBP
34 anterior horn cell disease 10.2 SMN2 SMN1
35 ophthalmomyiasis 10.2 TARDBP SOD1
36 muscular dystrophy, limb-girdle, autosomal dominant 2 10.2 CAV3 CAPN3
37 autosomal dominant limb-girdle muscular dystrophy 10.2 VCP CAV3 CAPN3
38 amyotrophic lateral sclerosis type 22 10.1 TARDBP FUS C9orf72
39 neuropathy 10.1
40 muscular dystrophy 10.1
41 multifocal motor neuropathy 10.1
42 ideomotor apraxia 10.1 TARDBP FUS C9orf72
43 pica disease 10.1 TARDBP FUS C9orf72
44 anal spasm 10.1 DPP6 AIRE
45 locked-in syndrome 10.1 TARDBP SOD1 FUS
46 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.1 TARDBP FUS C9orf72
47 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 CAV3 CAPN3
48 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.1 TARDBP SOD1 C9orf72
49 agraphia 10.1 VCP TARDBP C9orf72
50 glioma 10.1

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



Diseases related to Progressive Muscular Atrophy

Symptoms & Phenotypes for Progressive Muscular Atrophy

MGI Mouse Phenotypes related to Progressive Muscular Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AIRE ATXN2 C9orf72 NEFH PAX7 SMN2
2 homeostasis/metabolism MP:0005376 10.07 AIRE ATXN2 C9orf72 CAPN3 CAV3 CHMP2B
3 muscle MP:0005369 9.81 CAPN3 CAV3 PAX7 SMN2 SOD1 TARDBP
4 nervous system MP:0003631 9.8 AIRE ATXN2 C9orf72 CHMP2B DPP6 NEFH
5 no phenotypic analysis MP:0003012 9.23 AIRE C9orf72 CAPN3 OPTN PAX7 SMN2

Drugs & Therapeutics for Progressive Muscular Atrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ALS Reversals 4: LifeTime Exposures Completed NCT03706391
2 ALS Reversals: Genetic Analyses (St.A.R. Protocol 2) RDCRN CReATe Protocol #8007 Enrolling by invitation NCT03464903

Search NIH Clinical Center for Progressive Muscular Atrophy

Genetic Tests for Progressive Muscular Atrophy

Anatomical Context for Progressive Muscular Atrophy

MalaCards organs/tissues related to Progressive Muscular Atrophy:

40
Brain, Spinal Cord, Cortex, Liver, Bone Marrow, Bone, Heart

Publications for Progressive Muscular Atrophy

Articles related to Progressive Muscular Atrophy:

(show top 50) (show all 514)
# Title Authors PMID Year
1
Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy. 61 54
18367439 2008
2
Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease. 54 61
11993528 2002
3
Estimation of the prevalence and incidence of motor neuron diseases in two Spanish regions: Catalonia and Valencia. 61
33737526 2021
4
The cutaneous silent period in motor neuron disease. 61
33358125 2021
5
Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1. 61
33530934 2021
6
[Eosinophilic Granulomatosis with Polyangiitis with Pulmonary and Cardiac Involvement]. 61
32707588 2021
7
Progression of cognitive and behavioral disturbances in motor neuron diseases assessed using standard and computer-based batteries. 61
33463386 2021
8
Transaminitis in a Three-year-old Boy with Duchenne Muscular Dystrophy. 61
33447533 2020
9
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center. 61
33276405 2020
10
Structural and functional brain connectome in motor neuron diseases: A multicenter MRI study. 61
32913015 2020
11
A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis. 61
32501131 2020
12
Combined brain and spinal FDG PET allows differentiation between ALS and ALS mimics. 61
32314027 2020
13
Dissociated leg muscle atrophy in amyotrophic lateral sclerosis/motor neuron disease: the 'split-leg' sign. 61
32973334 2020
14
Blended psychosocial support for partners of patients with ALS and PMA: results of a randomized controlled trial. 61
32362155 2020
15
Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. 61
32385188 2020
16
[Calculation of the prevalence of progressive muscular atrophy among adults in China based on urban medical insurance data from 15 provinces]. 61
32541987 2020
17
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. 61
32055997 2020
18
Psychological distress in partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: what's the role of care demands and perceived control? 61
31747791 2020
19
Autophagy and Motor Neuron Diseases. 61
32671738 2020
20
Nasometric Scores in spinal and bulbar muscular atrophy - Effects of palatal lift prosthesis on dysarthria and dysphagia. 61
31669728 2019
21
Genotype-phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation. 61
31170830 2019
22
A 34-Year-Old Female Patient with Hirayama Disease Complicated by Severe Spinal Cord Injury. 61
31284057 2019
23
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. 61
31292617 2019
24
The Protective Effect of Aromatase on NSC-34 Cells with Stably Expressed hSOD1-G93A. 61
31129201 2019
25
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk. 61
30985904 2019
26
User perspectives on a psychosocial blended support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: a qualitative study. 61
31202270 2019
27
Advance care planning in progressive neurological diseases: lessons from ALS. 61
31196046 2019
28
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology. 61
30846210 2019
29
Superconditioning TMS unmasks latent voluntary innervation in MND - A case report. 61
30665069 2019
30
The width of the third ventricle associates with cognition and behaviour in motor neuron disease. 61
30183086 2019
31
Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes. 61
30076267 2019
32
Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy. 61
30511354 2019
33
Cross-sectional and longitudinal assessment of the upper cervical spinal cord in motor neuron disease. 61
31499409 2019
34
Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients. 61
30460449 2019
35
Implementing a Global Expanded Access Program (EAP) for Infantile-Onset Spinal Muscular Atrophy (Type I): Understanding the Imperative, Impact and Challenges. 61
31127730 2019
36
Palliative Sedation via Intraosseous Vascular Access: A Safe and Feasible Way to Obtain a Vascular Access End of Life. 61
30633698 2019
37
Global, regional, and national burden of motor neuron diseases 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016. 61
30409709 2018
38
The Swedish motor neuron disease quality registry. 61
30296856 2018
39
[A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates]. 61
30369522 2018
40
Brain-derived neurotrophic factor, insulin like growth factor-1 and inflammatory cytokine responses to continuous and intermittent exercise in patients with type 1 diabetes. 61
30179684 2018
41
A blended psychosocial support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: protocol of a randomized controlled trial. 61
29716660 2018
42
The utility of motor unit number estimation methods versus quantitative motor unit potential analysis in diagnosis of ALS. 61
29414408 2018
43
[Weak respiratory muscles as a first sign of ALS: symptoms may put the physician on the wrong track]. 61
29393015 2018
44
[Obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome in motor neuron disease: A case report and literature review]. 61
30154300 2018
45
What is in the Literature? 61
29189555 2017
46
[A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report]. 61
29070749 2017
47
Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria. 61
28440098 2017
48
Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS). 61
28003278 2017
49
Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder. 61
28566149 2017
50
Erratum: Use of sugammadex in a patient with progressive muscular atrophy and in a patient with amyotrophic lateral sclerosis: Case report: Erratum. 61
31305684 2017

Variations for Progressive Muscular Atrophy

ClinVar genetic disease variations for Progressive Muscular Atrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 GRCh37: 15:42680001-42680001
GRCh38: 15:42387803-42387803
2 CAPN3 NM_000070.3(CAPN3):c.1746-20C>G SNV Pathogenic 92408 rs201892814 GRCh37: 15:42695919-42695919
GRCh38: 15:42403721-42403721

Expression for Progressive Muscular Atrophy

Search GEO for disease gene expression data for Progressive Muscular Atrophy.

Pathways for Progressive Muscular Atrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 VCP VAPB UBQLN2 TARDBP SOD1 OPTN
2 11.99 TARDBP SOD1 OPTN NEFH
3 11.53 TARDBP SMN2 SMN1 FUS

GO Terms for Progressive Muscular Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.72 UNC13A SOD1 SMN2 SMN1 C9orf72
2 perikaryon GO:0043204 9.56 SMN2 SMN1 FUS C9orf72
3 cytoplasm GO:0005737 9.55 VCP VAPB UNC13A UBQLN2 TARDBP SOD1
4 autophagosome GO:0005776 9.54 UBQLN2 OPTN C9orf72
5 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1
6 Z disc GO:0030018 9.46 SMN2 SMN1 CAV3 CAPN3
7 Gemini of coiled bodies GO:0097504 9.43 SMN2 SMN1
8 SMN complex GO:0032797 9.4 SMN2 SMN1
9 cytoplasmic stress granule GO:0010494 9.26 VCP TARDBP C9orf72 ATXN2

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

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.73 TARDBP SMN2 SMN1 FUS
2 muscle organ development GO:0007517 9.58 PAX7 CAV3 CAPN3
3 import into nucleus GO:0051170 9.48 SMN2 SMN1
4 stress granule assembly GO:0034063 9.46 C9orf72 ATXN2
5 regulation of autophagosome assembly GO:2000785 9.37 UBQLN2 C9orf72
6 DNA-templated transcription, termination GO:0006353 9.32 SMN2 SMN1
7 regulation of aerobic respiration GO:1903715 9.26 VCP TRPV4
8 neurofilament cytoskeleton organization GO:0060052 9.16 SOD1 NEFH
9 muscle cell cellular homeostasis GO:0046716 9.13 SOD1 CAV3 CAPN3
10 autophagy GO:0006914 9.02 VCP UBQLN2 OPTN CHMP2B C9orf72

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.36 VCP UBQLN2 TRPV4 TARDBP SOD1 SMN2
2 polyubiquitin modification-dependent protein binding GO:0031593 9.13 VCP UBQLN2 OPTN

Sources for Progressive 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
Content
Loading form....