MCID: PRG001
MIFTS: 39

Progressive Muscular Atrophy malady

Neuronal diseases, Muscle diseases categories
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Summaries for Progressive Muscular Atrophy

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Wikipedia:65 Progressive muscular atrophy (PMA), also known as Duchenne-Aran muscular atrophy and Duchenne-Aran... more...

MalaCards based summary: Progressive Muscular Atrophy, also known as progressive spinal muscular atrophy, is related to muscular atrophy and motor neuron disease. An important gene associated with Progressive Muscular Atrophy is SMN1 (survival of motor neuron 1, telomeric), and among its related pathways are RNA transport and Regulation of Glucokinase by Glucokinase Regulatory Protein. The compounds aclarubicin and valproic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and brain, and related mouse phenotypes are muscle and respiratory system.

Aliases & Classifications for Progressive Muscular Atrophy

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 27ICD9CM
See all sources

Progressive Muscular Atrophy, Aliases & Descriptions:

Name: Progressive Muscular Atrophy 8 10 44 62
Progressive Spinal Muscular Atrophy 8 62
 
Pure Progressive Muscular Atrophy 8 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Muscle diseases


External Ids:

Disease Ontology8 DOID:318
NCIt39 C85027
SNOMED-CT57 88923002
MeSH34 D009134
ICD9CM27 335.21

Related Diseases for Progressive Muscular Atrophy

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



Diseases related to progressive muscular atrophy

Symptoms for Progressive Muscular Atrophy

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Drugs & Therapeutics for Progressive Muscular Atrophy

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Drug clinical trials:

Search ClinicalTrials for Progressive Muscular Atrophy

Search NIH Clinical Center for Progressive Muscular Atrophy

Genetic Tests for Progressive Muscular Atrophy

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Anatomical Context for Progressive Muscular Atrophy

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MalaCards organs/tissues related to Progressive Muscular Atrophy:

32
Spinal cord, Brain

Animal Models for Progressive Muscular Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Progressive Muscular Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2TRPV4, CAV3, LMNB1, SMN1
2MP:00053887.9TRPV4, LMNB1, SMN1, AIRE

Publications for Progressive Muscular Atrophy

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Articles related to Progressive Muscular Atrophy:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis. (24833696)
2014
2
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. (22919202)
2012
3
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. (20562407)
2011
4
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530331)
2010
5
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530332)
2010
6
Progressive muscular atrophy and other lower motor neuron syndromes of adults. (20082312)
2010
7
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (19917992)
2009
8
Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy. (18484238)
2008
9
Disease course and prognostic factors of progressive muscular atrophy. (17420313)
2007
10
Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy. (16361608)
2006
11
Absence of cognitive, behavioral, or emotional dysfunction in progressive muscular atrophy. (17101922)
2006
12
Myasthenia gravis with anti-MuSK antibody, showing progressive muscular atrophy without blepharoptosis. (16020904)
2005
13
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. (16183935)
2005
14
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy exists: additional autopsy case with a clinical course of 19 years. (15484701)
2004
15
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. (14506997)
2003
16
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. (12625412)
2002
17
Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). (10980308)
2000
18
Cortical function in progressive muscular atrophy and amyotrophic lateral sclerosis. (7807149)
1994
19
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. (2821729)
1987
20
Progressive muscular atrophy and posterior dislocation of the humerus following electric shock. (6709547)
1984
21
Late progressive muscular atrophy and antecedent poliomyelitis. (6983825)
1982
22
CSF viral antibodies. Evaluation in amyotrophic lateral sclerosis and late-onset postpoliomyelitis progressive muscular atrophy. (220938)
1979
23
Hereditary myoclonus and progressive muscular atrophy: a new syndrome. (757033)
1978
24
A modern method of the spectral analysis of the electromyogram in the spinal progressive muscular atrophy. (802629)
1976
25
The case of the saltimbanque Prosper Lecomte. A contribution to the study of the history of progressive muscular atrophy (Aran-Duchenne) and amyotrophic lateral sclerosis (Charcot). (782762)
1975
26
A case of spinal progressive muscular atrophy of lumbosacral leg thigh type. (5562105)
1971
27
Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891. (4952838)
1971
28
Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis. (5984523)
1966
29
Case study: progressive muscular atrophy. (5178995)
1966
30
PROGRESSIVE MUSCULAR ATROPHY IN AN INFANT. (14054964)
1963
31
The inheritance of progressive muscular atrophy as a dominant trait in two New England families. (13804989)
1960
32
Exertional dyspnea: a primary complaint in unusual cases of progressive muscular atrophy and amyotrophic lateral sclerosis. (13395221)
1957
33
Infantile progressive muscular atrophy; value of muscle biopsy in the diagnosis of and its differentiation from muscular dystrophy. (13217576)
1954
34
The relationship between progressive muscular atrophy of spinal origin and amyotonia congenita. (13103782)
1953
35
"Wetherbee Ail"; the inheritance of progressive muscular atrophy as a dominant trait in two New England families. (14875225)
1951
36
Infantile spinal progressive muscular atrophy in twins. (14879299)
1951
37
Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study. (15401720)
1950
38
The evaluation of spontaneous fasciculations in conditions other than progressive muscular atrophy. (14788102)
1950
39
Hereditary factors in infantile progressive muscular atrophy; study of 112 cases in 70 families. (18135521)
1949
40
Progressive muscular atrophy; and other conditions of muscular wasting. (20292923)
1946
41
Histopathologic characteristics of progressive muscular atrophy. (21065524)
1945
42
Progressive Muscular Atrophy associated with Paralysis Agitans. (19991356)
1938
43
THE TREATMENT OF PROGRESSIVE MUSCULAR ATROPHY BY PARATHYROID, CALCIUM, AND VITAMIN D. (20773946)
1928
44
A CASE OF PROGRESSIVE MUSCULAR ATROPHY OF THE PERONEAL TYPE; Twenty-one of the Patient's Relatives being also Affected. (20773966)
1928
45
Case of Progressive Muscular Atrophy (?) occurring Forty-two Years after Infantile Paralysis. (19983821)
1924
46
Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth). (19979757)
1917
47
Progressive Muscular Atrophy associated with Primary Muscular Dystrophy in the Second Generation. (19976520)
1913
48
Progressive Muscular Atrophy. (19976057)
1912
49
ON BULBAR PARALYSIS FOLLOWED BY PROGRESSIVE MUSCULAR ATROPHY, TREATED BY A NEW METHOD OF IONIC MEDICATION (STATIC IONIZATION). (20764042)
1908
50
Clinical Remarks on Cases Illustrating the Essential Identity of Progressive Muscular Atrophy and Progressive Bulbar Paralysis. (20750941)
1884

Variations for Progressive Muscular Atrophy

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Expression for genes affiliated with Progressive Muscular Atrophy

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Expression patterns in normal tissues for genes affiliated with Progressive Muscular Atrophy

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

Compounds for genes affiliated with Progressive Muscular Atrophy

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Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Progressive Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1aclarubicin449.6SMN1, SMN2
2valproic acid44 50 24 1112.6SMN2, SMN1
3phenylbutyrate449.5SMN1, SMN2
4tyrosine447.9AIRE, SMN1, LMNB1, TRPV4

GO Terms for genes affiliated with Progressive Muscular Atrophy

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Cellular components related to Progressive Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.5CAV3, SMN2

Biological processes related to Progressive Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cytosolic calcium ion concentrationGO:0072049.4TRPV4, CAV3
2actin filament organizationGO:0070159.1TRPV4, CAV3
3cell deathGO:0082198.7TRPV4, CHMP2B, SMN2

Molecular functions related to Progressive Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-tubulin bindingGO:0430149.4TRPV4, CAV3

Products for genes affiliated with Progressive Muscular Atrophy

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  • Antibodies
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Sources for Progressive Muscular Atrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet