SMA
MCID: SPN046
MIFTS: 63

Spinal Muscular Atrophy (SMA) malady

Neuronal diseases, Muscle diseases categories

Summaries for Spinal Muscular Atrophy

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 19GeneReviews, 32MalaCards
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NINDS:43 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 spinal cord, brain and testes, 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:42 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:33 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:63 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

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63Wikipedia, 21Genetics Home Reference, 60UMLS, 8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 10DISEASES, 33MedlinePlus, 30LifeMap Discovery™, 44Novoseek, 56SNOMED-CT, 27ICD9CM, 39NCIt, 34MeSH
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Classifications:

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


Aliases & Descriptions:

spinal muscular atrophy 8 63 19 42 20 22 21 43 10 33 30 60
progressive muscular atrophy 63 21 60
hereditary motor neuronopathy 63 21
sma 63 21
muscular atrophy spinal 44
spinal amyotrophy 21


External Ids:

Disease Ontology8 DOID:12377
ICD9CM27 335.1, 335.10
NCIt39 C85075
MeSH34 D009134

Related Diseases for Spinal Muscular Atrophy

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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 Type 2

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

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy32.3TRPV4, SMN2, SMN1, GTF2H2, NAIP, DDX20
2juvenile spinal muscular atrophy31.2SMN2, NAIP, SMN1
3progressive muscular atrophy31.1SMN1
4spinal muscular atrophy 131.0NAIP, SMN1, SMN2, GTF2H2
5spinal muscular atrophy type 230.9SMN2, SMN1, NAIP
6amyotrophic lateral sclerosis30.8SMN2, SMN1, NAIP, VAPB
7motor neuron disease30.8SMN2, NAIP, SMN1
8neuromuscular disease30.8NAIP, SMN1, SMN2
9neuropathy30.6GARS, TRPV4, SMN1, SMN2
10charcot-marie-tooth disease30.6GARS, TRPV4
11neuronitis11.1
12survival motor neuron spinal muscular atrophy11.0
13adult spinal muscular atrophy10.9
14spinal muscular atrophy with respiratory distress 110.9
15muscular dystrophy10.7
16werdnig-hoffmann disease10.7
17distal spinal muscular atrophy, type v10.7
18spinal muscular atrophy, lower extremity-predominant, ad10.6
19spinal muscular atrophy with progressive myoclonic epilepsy10.6
20lateral sclerosis10.6
21spinal-bulbar muscular atrophy10.6
22distal congenital nonprogressive spinal muscular atrophy10.6
23spinal muscular atrophy, lower extremity-predominant, 2, ad10.6
24duchenne muscular dystrophy10.5
25spinal muscular atrophy, late-onset, finkel type10.5
26distal spinal muscular atrophy type 310.5
27spinal muscular atrophy, x-linked infantile10.5
28adult progressive spinal muscular atrophy aran duchenne type10.5
29neuropathy, distal hereditary motor, jerash type10.5
30spinal muscular atrophy, x-linked 2, infantile10.5
31intermediate spinal muscular atrophy10.4
32spinal muscular atrophy, distal, autosomal recessive, 410.4
33distal hereditary motor neuropathy type 110.4
34distal hereditary motor neuronopathy type viib10.4
35distal hereditary motor neuronopathy, type iib10.4
36distal hereditary motor neuronopathy, type iic10.4
37becker muscular dystrophy10.4
38tooth disease10.4
39x-linked spinal-bulbar muscle atrophy10.4
40amyotrophy, neurogenic scapuloperoneal, new england type10.4
41monomelic amyotrophy10.4
42spinal muscular atrophy, lower extremity, autosomal dominant10.4
43spinal muscular atrophy, distal, autosomal recessive, 510.4
44spinal muscular atrophy, distal, x-linked 310.4
45spinal muscular atrophy - dandy-walker malformation - cataracts10.4
46axonal neuropathy10.3
47olivopontocerebellar atrophy10.3
48distal hereditary motor neuropathy10.3
49limb-girdle muscular dystrophy10.3
50myopathy10.3

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



Diseases related to spinal muscular atrophy

Clinical Features for Spinal Muscular Atrophy

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Drugs & Therapeutics for Spinal Muscular Atrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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

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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

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32MalaCards
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MalaCards organs/tissues related to Spinal Muscular Atrophy:

32
Spinal cord, Brain, Testes, Skeletal muscle, Bone, Heart, Lung, Prostate, Tongue, Skin, Eye

Animal Models for Spinal Muscular Atrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.6SMN1, PLEKHG5, TRPV4, ATP7A, GARS, DYNC1H1

Publications for Spinal Muscular Atrophy

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50PubMed
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Articles related to Spinal Muscular Atrophy:

(show top 50)    (show all 1035)
idTitleAuthorsYear
1
Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan. (23787009)
2013
2
Notch signaling pathway is activated in motoneurons of spinal muscular atrophy. (23759991)
2013
3
Distinct acoustic features in spinal and bulbar muscular atrophy patients with laryngospasm. (24361063)
2013
4
Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. (22490618)
2012
5
The natural history of infant spinal muscular atrophy in China: a study of 237 patients. (21954429)
2012
6
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. (22071333)
2012
7
Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy. (23107878)
2012
8
Stem cells in severe infantile spinal muscular atrophy (SMA1). (23046997)
2012
9
Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. (21227388)
2011
10
Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model. (21654213)
2011
11
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. (21216197)
2011
12
Compound muscle action potential and motor function in children with spinal muscular atrophy. (20737553)
2010
13
Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. (20610154)
2010
14
Infantile spinal muscular atrophy with respiratory distress type 1: a case report. (20197267)
2010
15
Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy. (19670325)
2009
16
The spinal muscular atrophy protein SMN affects Drosophila germline nuclear organization through the U body-P body pathway. (19464282)
2009
17
Drug treatment for spinal muscular atrophy type I. (19160274)
2009
18
Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease. (19839757)
2009
19
Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease). (19171827)
2009
20
Spinal muscular atrophy: the challenges of 'doing the right thing'. (19807884)
2009
21
Vascular perfusion abnormalities in infants with spinal muscular atrophy. (19619755)
2009
22
Rare missense and synonymous variants in UBE1 are associated with X- linked infantile spinal muscular atrophy. (18179898)
2008
23
Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system. (18720039)
2008
24
Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. (15720302)
2005
25
Is spinal muscular atrophy the result of defects in motor neuron processes? (16108074)
2005
26
A newborn infant with infantile spinal muscular atrophy associated with trisomy 21 and congenital hypothyroidism. (15844790)
2005
27
Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy. (19078730)
2004
28
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. (14560316)
2004
29
Spinal muscular atrophy: molecular genetics and diagnostics. (14711346)
2004
30
Mitral valve surgery in a patient with spinal progressive muscular atrophy: report of a case. (14506997)
2003
31
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. (12654964)
2003
32
Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype. (12220455)
2002
33
A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. (11978761)
2002
34
Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy. (12657835)
2002
35
A mouse model of spinal and bulbar muscular atrophy. (12189162)
2002
36
Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin. (11509571)
2001
37
SMN, the product of the spinal muscular atrophy gene, binds preferentially to dimethylarginine-containing protein targets. (11389857)
2001
38
The role of SMN in spinal muscular atrophy. (10795885)
2000
39
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy. (9701481)
1998
40
The survival motor neuron protein in spinal muscular atrophy. (9259265)
1997
41
Spinal muscular atrophies: recent insights and impact on molecular diagnosis. (8912176)
1996
42
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern. (8887955)
1996
43
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. (8808598)
1996
44
Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families. (8105458)
1993
45
Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. (1505990)
1992
46
Juvenile spinal muscular atrophy--a new hexosaminidase deficiency phenotype. (7348998)
1981
47
Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis. (5984523)
1966
48
Proximal spinal muscular atrophy. (5910575)
1966
49
HEREDITARY PROXIMAL SPINAL MUSCULAR ATROPHY. BIOCHEMICAL INVESTIGATIONS. (14267799)
1965
50
Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy. (13301901)
1955

Genetic Variations for Spinal Muscular Atrophy

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Expression for genes affiliated with Spinal Muscular Atrophy

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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

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29KEGG, 53Reactome
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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

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44Novoseek
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Compounds related to Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phenylbutyrate4410.5SMN2, SMN1
2aclarubicin4410.2SMN2, SMN1

GO Terms for genes affiliated with Spinal Muscular Atrophy

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16Gene Ontology
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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:00038710.5SMN2, DDX20
2cell deathGO:00821910.5SMN2, UBA1, DYNC1H1, GARS, TRPV4, VAPB
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

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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