SMA
MCID: SPN046
MIFTS: 60

Spinal Muscular Atrophy (SMA) malady

Neuronal, Muscle categories

Summaries for Spinal Muscular Atrophy

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 64Wikipedia, 19GeneReviews, 33MalaCards
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NINDS:44 Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.

MalaCards: Spinal Muscular Atrophy, also known as progressive muscular atrophy, is related to muscular atrophy and juvenile spinal muscular atrophy. An important gene associated with Spinal Muscular Atrophy is SMN2 (survival of motor neuron 2, centromeric), and among its related pathways are RNA transport and snRNP Assembly. The compounds phenylbutyrate and aclarubicin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and spinal cord, and related mouse phenotype muscle.

Disease Ontology:8 A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration.

Genetics Home Reference:21 Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. There are many types of spinal muscular atrophy distinguished by the pattern of features, severity of muscle weakness, and age when the muscle problems begin.

NIH Rare Diseases:43 Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness. it is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). the loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. in severe cases, the muscles used for breathing and swallowing are affected. spinal muscular atrophy is divided into subtypes based on the severity of the disease and the age when symptoms first appear. it is usually inherited as an autosomal recessive trait. last updated: 4/21/2010

MedlinePlus:34 Spinal muscular atrophy (sma) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. these cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. as the neurons die, the muscles weaken. this can affect walking, crawling, breathing, swallowing, and head and neck control. sma runs in families. parents usually have no symptoms, but still carry the gene. genetic counseling is important if the disease runs in your family. there are many types of sma. some of them are fatal. some people have a normal life expectancy. it depends on the type and how it affects breathing. there is no cure. treatments help with symptoms and prevent complications. they may include machines to help with breathing, nutritional support, physical therapy, and medicines. nih: national institute of neurological disorders and stroke

Wikipedia:64 Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a genetic defect in the SMN1... more...

GeneReviews summary for sma

Aliases & Classifications for Spinal Muscular Atrophy

Sources:
64Wikipedia, 21Genetics Home Reference, 61UMLS, 8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 44NINDS, 10DISEASES, 34MedlinePlus, 31LifeMap Discovery™, 45Novoseek, 57SNOMED-CT, 27ICD9CM, 40NCIt, 35MeSH
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Classifications:

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


Aliases & Descriptions:

spinal muscular atrophy 8 64 19 43 20 22 21 44 10 34 31 61
progressive muscular atrophy 64 21 61
hereditary motor neuronopathy 64 21
sma 64 21
muscular atrophy spinal 45
spinal amyotrophy 21


External Ids:

Disease Ontology8 DOID:12377
ICD9CM27 335.1, 335.10
NCIt40 C85075
MeSH35 D009134

Related Diseases for Spinal Muscular Atrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the spinal muscular atrophy 1 family:

intermediate spinal muscular atrophy adult spinal muscular atrophy
juvenile spinal muscular atrophy spinal muscular atrophy
congenital benign spinal muscular atrophy dominant spinal muscular atrophy with respiratory distress 1
spinal muscular atrophy type 2 spinal muscular atrophy type 1 with congenital bone fractures
spinal muscular atrophy with progressive myoclonic epilepsy

Diseases related to Spinal Muscular Atrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy32.4TRPV4, SMN2, SMN1, GTF2H2, NAIP, DDX20
2juvenile spinal muscular atrophy31.3SMN2, NAIP, SMN1
3spinal muscular atrophy 131.0NAIP, SMN1, SMN2, GTF2H2
4spinal muscular atrophy type 230.9SMN2, SMN1, NAIP
5progressive muscular atrophy30.9SMN1
6amyotrophic lateral sclerosis30.8SMN2, SMN1, NAIP, VAPB
7survival motor neuron spinal muscular atrophy11.0
8proximal spinal muscular atrophy11.0
9adult spinal muscular atrophy10.9
10spinal muscular atrophy with respiratory distress 110.9
11werdnig-hoffman disease10.7
12werdnig-hoffmann disease10.7
13distal spinal muscular atrophy, type v10.7
14spinal muscular atrophy with progressive myoclonic epilepsy10.6
15lateral sclerosis10.6
16distal congenital nonprogressive spinal muscular atrophy10.6
17spinal muscular atrophy, lower extremity-predominant, ad10.6
18duchenne muscular dystrophy10.5
19adult progressive spinal muscular atrophy aran duchenne type10.5
20spinal muscular atrophy, lower extremity-predominant, 2, ad10.5
21spinal muscular atrophy, x-linked 2, infantile10.5
22distal spinal muscular atrophy type 310.5
23intermediate spinal muscular atrophy10.5
24arthrogryposis spinal muscular atrophy10.5
25neuropathy, distal hereditary motor, jerash type10.5
26spinal muscular atrophy, late-onset, finkel type10.5
27distal hereditary motor neuronopathy type viib10.5
28distal hereditary motor neuronopathy, type iib10.5
29distal hereditary motor neuronopathy, type iic10.5
30becker muscular dystrophy10.4
31tooth disease10.4
32spinal muscular atrophy, x-linked infantile10.4
33amyotrophy, neurogenic scapuloperoneal, new england type10.4
34spinal muscular atrophy, lower extremity, autosomal dominant10.4
35spinal muscular atrophy, distal, autosomal recessive, 410.4
36distal hereditary motor neuropathy type 110.4
37axonal neuropathy10.4
38olivopontocerebellar atrophy10.4
39limb-girdle muscular dystrophy10.4
40x-linked spinal-bulbar muscle atrophy10.4
41spinal-bulbar muscular atrophy10.4
42congenital benign spinal muscular atrophy dominant10.4
43monomelic amyotrophy10.4
44spinal muscular atrophy ryukyuan type10.4
45spinal muscular atrophy, proximal, adult, autosomal dominant10.4
46distal spinal muscular atrophy 410.4
47distal hereditary motor neuropathy type v10.4
48spinal muscular atrophy, distal, autosomal recessive, 510.4
49spinal muscular atrophy, distal, x-linked 310.4
50spinal muscular atrophy - dandy-walker complex - cataracts10.4

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



Diseases related to spinal muscular atrophy

Clinical Features for Spinal Muscular Atrophy

Drugs & Therapeutics for Spinal Muscular Atrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Spinal Muscular Atrophy

Drug clinical trials:

Search ClinicalTrials for Spinal Muscular Atrophy

Search NIH Clinical Center for Spinal Muscular Atrophy

Search CenterWatch for Spinal Muscular Atrophy

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Spinal Muscular Atrophy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Spinal Muscular Atrophy:
MotorGraft
Embryonic/Adult Cultured Cells Related to Spinal Muscular Atrophy:
Motor neuron progenitor cells

Genetic Tests for Spinal Muscular Atrophy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Spinal Muscular Atrophy:

id Genetic test Affiliating Genes
1 Spinal Muscular Atrophy20 22 SMN2
2 Spinal Muscular Atrophy (smn1)20 SMN1
3 Spinal Muscular Atrophy (smn2)20 SMN2

Anatomical Context for Spinal Muscular Atrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Spinal Muscular Atrophy:

33
Whole blood, Brain, Spinal cord, Heart, Skeletal muscle, Small intestine, Lung, Skin, Prostate, T cells, Fetal brain, Tongue, Fetal lung

Animal Models for Spinal Muscular Atrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.6SMN1, PLEKHG5, TRPV4, ATP7A, GARS, DYNC1H1

Publications for Spinal Muscular Atrophy

Sources:
51PubMed
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Articles related to Spinal Muscular Atrophy:

(show top 50)    (show all 1031)
idTitleAuthorsYear
1
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy. (23729582)
2013
2
Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling. (23453857)
2013
3
Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients. (24093531)
2013
4
Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion. (23886397)
2013
5
Late onset GM2 gangliosidosis mimicking spinal muscular atrophy. (23820084)
2013
6
Distinct acoustic features in spinal and bulbar muscular atrophy patients with laryngospasm. (24361063)
2013
7
Heterozygosity assessment of five STR loci located at 5q13 region for preimplantation genetic diagnosis of spinal muscular atrophy. (23132709)
2013
8
Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy. (24172247)
2013
9
Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity. (23299920)
2013
10
Rasch analysis of clinical outcome measures in spinal muscular atrophy. (23836324)
2013
11
International survey of physician recommendation for tracheostomy for Spinal Muscular Atrophy Type I. (22170631)
2012
12
Decreasing disease severity in symptomatic, Smn(-/-);SMN2(+/+), spinal muscular atrophy mice following scAAV9-SMN delivery. (22029744)
2012
13
The natural history of infant spinal muscular atrophy in China: a study of 237 patients. (21954429)
2012
14
Disruption of nongenomic testosterone signaling in a model of spinal and bulbar muscular atrophy. (22570336)
2012
15
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. (22071333)
2012
16
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number. (22082206)
2012
17
Spinal muscular atrophy: an update. (21391754)
2011
18
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. (21216197)
2011
19
B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. (20336775)
2010
20
The cost-effectiveness of prenatal screening for spinal muscular atrophy. (20207244)
2010
21
Spinal muscular atrophy disease: a literature review for therapeutic strategies. (20302191)
2010
22
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. (19897588)
2010
23
Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease. (19839757)
2009
24
Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy. (19437551)
2009
25
Strategies of hip management in neuromuscular disorders: Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita. (19306247)
2009
26
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy. (18321505)
2008
27
Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system. (18720039)
2008
28
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy]. (18844099)
2008
29
Spinal muscular atrophy and therapeutic prospects. (17076267)
2006
30
A newborn infant with infantile spinal muscular atrophy associated with trisomy 21 and congenital hypothyroidism. (15844790)
2005
31
Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy. (14764971)
2004
32
A clinical and genetic study of spinal muscular atrophy. (15378871)
2004
33
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. (14506997)
2003
34
Trinucleotide repeat disease. The androgen receptor in spinal and bulbar muscular atrophy. (12481545)
2002
35
Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
2001
36
Treatment of spinal muscular atrophy by sodium butyrate. (11504946)
2001
37
Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin. (11509571)
2001
38
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. (10655541)
2000
39
SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. (10500148)
1999
40
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). (9158159)
1997
41
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. (8808598)
1996
42
SMN gene deletion in variant of infantile spinal muscular atrophy. (7630275)
1995
43
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. (7639755)
1995
44
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. (8252045)
1993
45
Spinal Muscular Atrophy, X-Linked Infantile (20301739)
1993
46
Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. (1505990)
1992
47
DNA probes in differential diagnosis of Becker muscular dystrophy and spinal muscular atrophy. (2563028)
1989
48
A clinical and genetic study of chronic proximal spinal muscular atrophy. (1182487)
1975
49
Familial proximal spinal muscular atrophy. Study of a large pedigree. (5857744)
1965
50
Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy. (13301901)
1955

Genetic Variations for Spinal Muscular Atrophy

Expression for genes affiliated with Spinal Muscular Atrophy

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

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

Pathways for genes affiliated with Spinal Muscular Atrophy

Sources:
30KEGG, 54Reactome
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Pathways related to Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.6SMN2, SMN1, DDX20
2
Hide members
10.5SMN1, DDX20

Compounds for genes affiliated with Spinal Muscular Atrophy

Sources:
45Novoseek
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Compounds related to Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phenylbutyrate4510.5SMN2, SMN1
2aclarubicin4510.2SMN2, SMN1

GO Terms for genes affiliated with Spinal Muscular Atrophy

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1spliceosomal complexGO:00568110.6SMN2, SMNDC1, DDX20
2Gemini of coiled bodiesGO:09750410.2SMN2, DDX20

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

idNameGO IDScoreTop Affiliating Genes
1spliceosomal snRNP assemblyGO:00038710.5DDX20, SMN2
2cell deathGO:00821910.5GARS, SMN2, VAPB, TRPV4, UBA1, DYNC1H1
3ncRNA metabolic processGO:03466010.2SMN2, DDX20

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

idNameGO IDScoreTop Affiliating Genes
1beta-tubulin bindingGO:04848710.5VAPB, TRPV4
2ATP bindingGO:00552410.3NAIP, TRPV4, ATP7A, DDX20, GARS, DYNC1H1

Products for genes affiliated with Spinal Muscular Atrophy

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Sources for Spinal 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