MCID: PRG001
MIFTS: 38

Progressive Muscular Atrophy malady

Neuronal diseases, Muscle diseases categories

Summaries for Progressive Muscular Atrophy

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66Wikipedia, 34MalaCards
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Wikipedia:66 Progressive muscular atrophy (PMA), also known as Duchenne-Aran muscular atrophy and Duchenne-Aran... more...

MalaCards: Progressive Muscular Atrophy, also known as progressive spinal muscular atrophy, is related to muscular atrophy and amyotrophic lateral sclerosis. 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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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH, 28ICD9CM
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Classifications:

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


Aliases & Descriptions:

progressive muscular atrophy 9 11 46 63
progressive spinal muscular atrophy 9
pure progressive muscular atrophy 9


External Ids:

Disease Ontology9 DOID:318
NCIt41 C85027
SNOMED-CT59 88923002
MeSH36 D009134
ICD9CM28 335.21

Related Diseases for Progressive Muscular Atrophy

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Progressive Muscular Atrophy

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Genetic Tests for Progressive Muscular Atrophy

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Anatomical Context for Progressive Muscular Atrophy

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34MalaCards
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MalaCards organs/tissues related to Progressive Muscular Atrophy:

34
Spinal cord, Brain

Animal Models for Progressive Muscular Atrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Progressive Muscular Atrophy:

38
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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53PubMed
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Articles related to Progressive Muscular Atrophy:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. (22919202)
2012
2
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. (20562407)
2011
3
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530331)
2010
4
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530332)
2010
5
Progressive muscular atrophy and other lower motor neuron syndromes of adults. (20082312)
2010
6
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (19917992)
2009
7
Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy. (18484238)
2008
8
Disease course and prognostic factors of progressive muscular atrophy. (17420313)
2007
9
Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy. (16361608)
2006
10
Absence of cognitive, behavioral, or emotional dysfunction in progressive muscular atrophy. (17101922)
2006
11
Myasthenia gravis with anti-MuSK antibody, showing progressive muscular atrophy without blepharoptosis. (16020904)
2005
12
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. (16183935)
2005
13
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
14
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. (14506997)
2003
15
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
16
Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). (10980308)
2000
17
Cortical function in progressive muscular atrophy and amyotrophic lateral sclerosis. (7807149)
1994
18
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. (2821729)
1987
19
Progressive muscular atrophy and posterior dislocation of the humerus following electric shock. (6709547)
1984
20
Late progressive muscular atrophy and antecedent poliomyelitis. (6983825)
1982
21
CSF viral antibodies. Evaluation in amyotrophic lateral sclerosis and late-onset postpoliomyelitis progressive muscular atrophy. (220938)
1979
22
Hereditary myoclonus and progressive muscular atrophy: a new syndrome. (757033)
1978
23
A modern method of the spectral analysis of the electromyogram in the spinal progressive muscular atrophy. (802629)
1976
24
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
25
A case of spinal progressive muscular atrophy of lumbosacral leg thigh type. (5562105)
1971
26
Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891. (4952838)
1971
27
Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis. (5984523)
1966
28
Case study: progressive muscular atrophy. (5178995)
1966
29
PROGRESSIVE MUSCULAR ATROPHY IN AN INFANT. (14054964)
1963
30
The inheritance of progressive muscular atrophy as a dominant trait in two New England families. (13804989)
1960
31
Exertional dyspnea: a primary complaint in unusual cases of progressive muscular atrophy and amyotrophic lateral sclerosis. (13395221)
1957
32
Infantile progressive muscular atrophy; value of muscle biopsy in the diagnosis of and its differentiation from muscular dystrophy. (13217576)
1954
33
The relationship between progressive muscular atrophy of spinal origin and amyotonia congenita. (13103782)
1953
34
"Wetherbee Ail"; the inheritance of progressive muscular atrophy as a dominant trait in two New England families. (14875225)
1951
35
Infantile spinal progressive muscular atrophy in twins. (14879299)
1951
36
Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study. (15401720)
1950
37
The evaluation of spontaneous fasciculations in conditions other than progressive muscular atrophy. (14788102)
1950
38
Hereditary factors in infantile progressive muscular atrophy; study of 112 cases in 70 families. (18135521)
1949
39
A STUDY OF THE HUMAN MYOGRAM. A STUDY OF NORMALS, AND OF PATIENTS WITH ADDISON'S DISEASE, THYROTOXICOSIS AND PROGRESSIVE MUSCULAR ATROPHY. (16695528)
1948
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Progressive Muscular Atrophy

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Compounds for genes affiliated with Progressive Muscular Atrophy

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46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Progressive Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1aclarubicin469.6SMN2, SMN1
2valproic acid46 52 25 1212.6SMN2, SMN1
3phenylbutyrate469.5SMN2, SMN1
4tyrosine467.9AIRE, SMN1, LMNB1, TRPV4

GO Terms for genes affiliated with Progressive Muscular Atrophy

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17Gene Ontology
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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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Sources for Progressive Muscular Atrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet