MCID: PRG001
MIFTS: 36

Progressive Muscular Atrophy malady

Muscle diseases category

Summaries for Progressive Muscular Atrophy

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 spinal muscular atrophy. An important gene associated with Progressive Muscular Atrophy is SMN1 (survival of motor neuron 1, telomeric), and among its related pathways is Endocytosis. Affiliated tissues include spinal cord and brain, and related mouse phenotypes are no phenotypic analysis and respiratory system.

Aliases & Classifications for Progressive Muscular Atrophy

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH
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Classifications:

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


Aliases & Descriptions:

progressive muscular atrophy 8 10 44 60
progressive spinal muscular atrophy 8
pure progressive muscular atrophy 8


External Ids:

Disease Ontology8 DOID:318
NCIt39 C85027
SNOMED-CT56 88923002
ICD9CM27 335.21
MeSH34 D009134

Related Diseases for Progressive Muscular Atrophy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Progressive Muscular Atrophy:



Diseases related to progressive muscular atrophy

Clinical Features for Progressive Muscular Atrophy

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Drugs & Therapeutics for Progressive Muscular Atrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

Search CenterWatch for Progressive Muscular Atrophy

Genetic Tests for Progressive Muscular Atrophy

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Anatomical Context for Progressive Muscular Atrophy

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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Progressive Muscular Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.7SMN1, EHD1, AIRE, NEU1
2MP:00053888.6NEU1, AIRE, TRPV4, LMNB1, SMN1
3MP:00053698.4CAV3, NEU1, TRPV4, LMNB1, SMN1
4MP:00053858.0CAV3, FOLH1, NEU1, TRPV4, SMN1
5MP:00053867.8FOLH1, NEU1, AIRE, TRPV4, EHD1, SMN1
6MP:00053847.7CAV3, NEU1, AIRE, EHD1, LMNB1, SMN1
7MP:00053767.5CAV3, FOLH1, NEU1, AIRE, TRPV4, EHD1
8MP:00036317.3SMN1, LMNB1, DPP6, TRPV4, AIRE, NEU1

Publications for Progressive Muscular Atrophy

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50PubMed
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Articles related to Progressive Muscular Atrophy:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Spinal muscular atrophy: an update on therapeutic progress. (23994186)
2013
2
Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. (23393146)
2013
3
SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. (23477310)
2013
4
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. (22919202)
2012
5
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. (22689196)
2012
6
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. (22703880)
2012
7
Minimum 5-year radiographic results of long scoliosis fusion in juvenile spinal muscular atrophy patients: major curve progression after instrumented fusion. (21654453)
2011
8
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530332)
2010
9
Motor neuron disease: progressive muscular atrophy in the ALS spectrum. (20379201)
2010
10
The history of progressive muscular atrophy: syndrome or disease? (18299524)
2008
11
Slowly progressive distal muscular atrophy of the bilateral upper limbs (O'Sullivan-McLeod syndrome) partially alleviated by intravenous immunoglobulin therapy. (17443046)
2007
12
Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy. (16361608)
2006
13
Myasthenia gravis with anti-MuSK antibody, showing progressive muscular atrophy without blepharoptosis. (16020904)
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
Abrupt onset of progressive muscular atrophy. (15204026)
2004
16
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. (14506997)
2003
17
Riluzole attenuates spinal muscular atrophy disease progression in a mouse model. (14506714)
2003
18
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. (12571787)
2002
19
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
20
Diagnostic progress in spinal muscular atrophy]. (11987841)
2001
21
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. (2821729)
1987
22
Progressive muscular atrophy and posterior dislocation of the humerus following electric shock. (6709547)
1984
23
Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. (7166018)
1982
24
Hereditary myoclonus and progressive muscular atrophy: a new syndrome. (757033)
1978
25
A modern method of the spectral analysis of the electromyogram in the spinal progressive muscular atrophy. (802629)
1976
26
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
27
Werdnig-Hoffman's disease--infantile progressive muscular atrophy report of case. (1089112)
1975
28
A case of spinal progressive muscular atrophy of lumbosacral leg thigh type. (5562105)
1971
29
Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis. (5984523)
1966
30
Case study: progressive muscular atrophy. (5178995)
1966
31
PROGRESSIVE MUSCULAR ATROPHY IN AN INFANT. (14054964)
1963
32
The inheritance of progressive muscular atrophy as a dominant trait in two New England families. (13804989)
1960
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
Werdnig-Hoffmann's progressive muscular atrophy. Creatine excretion following vitamin E treatment and muscle radiography. (14902615)
1951
36
Hereditary factors in infantile progressive muscular atrophy; study of 112 cases in 70 families. (18135521)
1949
37
A STUDY OF THE HUMAN MYOGRAM. A STUDY OF NORMALS, AND OF PATIENTS WITH ADDISON'S DISEASE, THYROTOXICOSIS AND PROGRESSIVE MUSCULAR ATROPHY. (16695528)
1948
38
Progressive muscular atrophy. (20267962)
1947
39
Progressive muscular atrophy; and other conditions of muscular wasting. (20292923)
1946
40
Progressive Muscular Atrophy associated with Paralysis Agitans. (19991356)
1938
41
Trauma with Progressive Muscular Atrophy. (20781207)
1938
42
Progressive Muscular Atrophy of Spinal Origin. (19987929)
1931
43
A CASE OF PROGRESSIVE MUSCULAR ATROPHY OF THE PERONEAL TYPE; Twenty-one of the Patient's Relatives being also Affected. (20773966)
1928
44
Case of Fibrillation of the Abdominal and Shoulder-girdle Muscles (? Progressive Muscular Atrophy) as a Sequel of Poliomyelitis. (19985320)
1926
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
Case of Progressive Muscular Atrophy, with Bulbar Paralysis. (20749760)
1881

Genetic Variations for Progressive Muscular Atrophy

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Expression for genes affiliated with Progressive Muscular Atrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Progressive Muscular Atrophy

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Pathways for genes affiliated with Progressive Muscular Atrophy

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29KEGG
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Pathways related to Progressive Muscular Atrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2EHD1, CHMP2B, CAV3

Compounds for genes affiliated with Progressive Muscular Atrophy

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GO Terms for genes affiliated with Progressive Muscular Atrophy

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16Gene Ontology
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Biological processes related to Progressive Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholesterol homeostasisGO:0426329.5EHD1, CAV3
2actin filament organizationGO:0070159.4TRPV4, CAV3
3cell deathGO:0082198.8DPP6, TRPV4, CHMP2B

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

idNameGO IDScoreTop Affiliating Genes
1alpha-tubulin bindingGO:0430149.7TRPV4, CAV3

Products for genes affiliated with Progressive Muscular Atrophy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet