MCID: PRG001
MIFTS: 36

Progressive Muscular Atrophy malady

Muscle diseases category

Summaries for Progressive Muscular Atrophy

About this section
Sources:
63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH
See all sources

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

About this section
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

About this section

Drugs & Therapeutics for Progressive Muscular Atrophy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section

Anatomical Context for Progressive Muscular Atrophy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Progressive Muscular Atrophy:

32
Spinal cord, Brain

Animal Models for Progressive Muscular Atrophy or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Progressive Muscular Atrophy:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. (24164096)
2013
2
At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression. (23514457)
2013
3
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
4
SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. (23477310)
2013
5
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy. (22689196)
2012
6
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. (20562407)
2011
7
Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530332)
2010
8
Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy. (18484238)
2008
9
Clinical patterns in progressive muscular atrophy (PMA): a prospective study. (17852011)
2007
10
Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy. (16361608)
2006
11
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. (15851746)
2005
12
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. (16183935)
2005
13
Progress in Spinobulbar muscular atrophy research: insights into neuronal dysfunction caused by the polyglutamine-expanded androgen receptor. (15897156)
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
Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy. (11018816)
2000
22
Cortical function in progressive muscular atrophy and amyotrophic lateral sclerosis. (7807149)
1994
23
Childhood progressive spinal muscular atrophy with facioscapulo-humeral predominance, sensory and autonomic involvement and optic atrophy. (7892958)
1994
24
Nemaline bodies in spinal progressive muscular atrophy. An autopsy case. (2821729)
1987
25
A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy. (3789668)
1986
26
Late progressive muscular atrophy and antecedent poliomyelitis. (6983825)
1982
27
Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. (7166018)
1982
28
Hereditary myoclonus and progressive muscular atrophy: a new syndrome. (757033)
1978
29
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
30
Werdnig-Hoffman's disease--infantile progressive muscular atrophy report of case. (1089112)
1975
31
Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891. (4952838)
1971
32
Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis. (5984523)
1966
33
Case study: progressive muscular atrophy. (5178995)
1966
34
PROGRESSIVE MUSCULAR ATROPHY IN AN INFANT. (14054964)
1963
35
Infantile progressive muscular atrophy; value of muscle biopsy in the diagnosis of and its differentiation from muscular dystrophy. (13217576)
1954
36
The relationship between progressive muscular atrophy of spinal origin and amyotonia congenita. (13103782)
1953
37
Progressive Muscular Atrophy associated with Paralysis Agitans. (19991356)
1938
38
Trauma with Progressive Muscular Atrophy. (20781207)
1938
39
Associated Paresis of the Internal Tensors and Abductors of the Vocal Cords in a Case of Combined Bulbar Paralysis and Progressive Muscular Atrophy. (19987495)
1930
40
A CASE OF PROGRESSIVE MUSCULAR ATROPHY OF THE PERONEAL TYPE; Twenty-one of the Patient's Relatives being also Affected. (20773966)
1928
41
Case of Fibrillation of the Abdominal and Shoulder-girdle Muscles (? Progressive Muscular Atrophy) as a Sequel of Poliomyelitis. (19985320)
1926
42
The Syphilitic Forms of Progressive Muscular Atrophy. (19984439)
1925
43
Case of Progressive Muscular Atrophy (?) occurring Forty-two Years after Infantile Paralysis. (19983821)
1924
44
Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth). (19979757)
1917
45
Progressive Muscular Atrophy. (19976057)
1912
46
ON BULBAR PARALYSIS FOLLOWED BY PROGRESSIVE MUSCULAR ATROPHY, TREATED BY A NEW METHOD OF IONIC MEDICATION (STATIC IONIZATION). (20764042)
1908
47
Progressive Muscular Atrophy of Spinal Origin. (18732755)
1903
48
Clinical Remarks on Cases Illustrating the Essential Identity of Progressive Muscular Atrophy and Progressive Bulbar Paralysis. (20750941)
1884
49
Case of Progressive Muscular Atrophy, with Bulbar Paralysis. (20749760)
1881
50
Progressive Muscular Atrophy, accompanied by Muscular Rigidity and Contraction of Joints; examination of the Brain and Spinal Cord. (20896396)
1873

Genetic Variations for Progressive Muscular Atrophy

About this section

Expression for genes affiliated with Progressive Muscular Atrophy

About this section
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

About this section
Sources:
29KEGG
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

About this section

GO Terms for genes affiliated with Progressive Muscular Atrophy

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressive Muscular Atrophy

About this section
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