MCID: PRG001
MIFTS: 34

Progressive Muscular Atrophy malady

Muscle category

Summaries for Progressive Muscular Atrophy

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 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 brain and spinal cord, and related mouse phenotypes are no phenotypic analysis and respiratory system.

Aliases & Classifications for Progressive Muscular Atrophy

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 27ICD9CM, 35MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

progressive muscular atrophy 8 10 45 61
progressive spinal muscular atrophy 8
pure progressive muscular atrophy 8


External Ids:

Disease Ontology8 DOID:318
NCIt40 C85027
SNOMED-CT57 88923002
ICD9CM27 335.21
MeSH35 D009134

Related Diseases for Progressive Muscular Atrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to progressive muscular atrophy

Clinical Features for Progressive Muscular Atrophy

Drugs & Therapeutics for Progressive Muscular Atrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Progressive Muscular Atrophy

Drug clinical trials:

Search ClinicalTrials for Progressive Muscular Atrophy

Search NIH Clinical Center for Progressive Muscular Atrophy

Search CenterWatch for Progressive Muscular Atrophy

Genetic Tests for Progressive Muscular Atrophy

Anatomical Context for Progressive Muscular Atrophy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Progressive Muscular Atrophy:

33
Brain, Spinal cord

Animal Models for Progressive Muscular Atrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Progressive Muscular Atrophy

Sources:
51PubMed
See all sources

Articles related to Progressive Muscular Atrophy:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. (24164096)
2013
2
SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. (23477310)
2013
3
Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease. (22919202)
2012
4
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. (22689196)
2012
5
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. (22703880)
2012
6
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. (20562407)
2011
7
Motor neuron disease: progressive muscular atrophy in the ALS spectrum. (20379201)
2010
8
Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy. (18484238)
2008
9
The history of progressive muscular atrophy: syndrome or disease? (18299524)
2008
10
Disease course and prognostic factors of progressive muscular atrophy. (17420313)
2007
11
Slowly progressive distal muscular atrophy of the bilateral upper limbs (O'Sullivan-McLeod syndrome) partially alleviated by intravenous immunoglobulin therapy. (17443046)
2007
12
Clinical patterns in progressive muscular atrophy (PMA): a prospective study. (17852011)
2007
13
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. (15851746)
2005
14
Myasthenia gravis with anti-MuSK antibody, showing progressive muscular atrophy without blepharoptosis. (16020904)
2005
15
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. (16183935)
2005
16
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
17
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. (14506997)
2003
18
Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS. (12707426)
2003
19
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. (12571787)
2002
20
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
21
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study. (10202983)
1999
22
Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy. (7605563)
1993
23
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. (2821729)
1987
24
Late progressive muscular atrophy and antecedent poliomyelitis. (6983825)
1982
25
CSF viral antibodies. Evaluation in amyotrophic lateral sclerosis and late-onset postpoliomyelitis progressive muscular atrophy. (220938)
1979
26
Hereditary myoclonus and progressive muscular atrophy: a new syndrome. (757033)
1978
27
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
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
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
A STUDY OF THE HUMAN MYOGRAM. A STUDY OF NORMALS, AND OF PATIENTS WITH ADDISON'S DISEASE, THYROTOXICOSIS AND PROGRESSIVE MUSCULAR ATROPHY. (16695528)
1948
39
Progressive muscular atrophy. (20267962)
1947
40
Progressive Muscular Atrophy associated with Paralysis Agitans. (19991356)
1938
41
Progressive Muscular Atrophy of Spinal Origin. (19987929)
1931
42
A CASE OF PROGRESSIVE MUSCULAR ATROPHY OF THE PERONEAL TYPE; Twenty-one of the Patient's Relatives being also Affected. (20773966)
1928
43
Progressive Muscular Atrophy with Involuntary Movements of One Arm. (19986287)
1928
44
Case of Progressive Muscular Atrophy following Poliomyelitis. (19983810)
1924
45
Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth). (19979757)
1917
46
Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth). (19979762)
1917
47
Progressive Muscular Atrophy. (19976057)
1912
48
ON BULBAR PARALYSIS FOLLOWED BY PROGRESSIVE MUSCULAR ATROPHY, TREATED BY A NEW METHOD OF IONIC MEDICATION (STATIC IONIZATION). (20764042)
1908
49
PROGRESSIVE MUSCULAR ATROPHY, WITHOUT INVOLVEMENT OF THE PYRAMIDAL TRACTS. (19971406)
1901
50
Case of Progressive Muscular Atrophy, with Bulbar Paralysis. (20749760)
1881

Genetic Variations for Progressive Muscular Atrophy

Expression for genes affiliated with Progressive Muscular Atrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Progressive Muscular Atrophy

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

Pathways for genes affiliated with Progressive Muscular Atrophy

Sources:
30KEGG
See all sources

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

GO Terms for genes affiliated with Progressive Muscular Atrophy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressive Muscular Atrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet