SMA
MCID: SPN046
MIFTS: 65

Spinal Muscular Atrophy (SMA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Spinal Muscular Atrophy

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 65Wikipedia, 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 Regulation of Glucokinase by Glucokinase Regulatory Protein and RNA transport. 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 phenotypes are homeostasis/metabolism and behavior/neurological.

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:65 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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8Disease Ontology, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 34MedlinePlus, 31LifeMap Discoveryâ„¢, 62UMLS, 27ICD9CM, 58SNOMED-CT, 35MeSH, 40NCIt
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Classifications:

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


Aliases & Descriptions:

spinal muscular atrophy 8 65 19 43 20 22 21 44 10 34 31 62
progressive muscular atrophy 65 21 62
hereditary motor neuronopathy 65 21
sma 65 21
muscular atrophy spinal 45
spinal amyotrophy 21


External Ids:

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

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 185)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy32.3DDX20, SMN1, SMN2, NAIP, TRPV4
2juvenile spinal muscular atrophy31.3SMN1, SMN2, NAIP
3spinal muscular atrophy type 231.3SMN1, SMN2, NAIP
4spinal muscular atrophy 131.2SMN1, SMN2, NAIP
5amyotrophic lateral sclerosis30.9SMN1, SMN2, NAIP, VAPB
6motor neuron disease30.8NAIP, SMN2, SMN1
7neuromuscular disease30.7SMN1, SMN2, NAIP
8charcot-marie-tooth disease30.6TRPV4, GARS
9neuropathy30.6SMN1, SMN2, GARS, TRPV4
10progressive muscular atrophy30.4SMN1
11neuronitis11.1
12proximal spinal muscular atrophy11.0
13spinal muscular atrophy with respiratory distress 110.9
14adult spinal muscular atrophy10.8
15muscular dystrophy10.7
16distal spinal muscular atrophy, type v10.7
17werdnig-hoffmann disease10.7
18spinal muscular atrophy with progressive myoclonic epilepsy10.7
19spinal muscular atrophy, lower extremity-predominant, ad10.7
20spinal-bulbar muscular atrophy10.7
21distal congenital nonprogressive spinal muscular atrophy10.6
22lateral sclerosis10.6
23spinal muscular atrophy, lower extremity-predominant, 2, ad10.6
24spinal muscular atrophy, late-onset, finkel type10.6
25distal spinal muscular atrophy type 310.6
26adult progressive spinal muscular atrophy aran duchenne type10.5
27neuropathy, distal hereditary motor, jerash type10.5
28spinal muscular atrophy, x-linked 2, infantile10.5
29blindness10.5
30duchenne muscular dystrophy10.5
31spinal muscular atrophy, x-linked infantile10.5
32monomelic amyotrophy10.5
33spinal muscular atrophy, distal, autosomal recessive, 410.5
34distal hereditary motor neuropathy type 110.5
35spinal muscular atrophy with respiratory distress type 210.5
36distal hereditary motor neuronopathy type viib10.5
37distal hereditary motor neuronopathy, type iib10.5
38distal hereditary motor neuronopathy, type iic10.5
39becker muscular dystrophy10.4
40intermediate spinal muscular atrophy10.4
41survival motor neuron spinal muscular atrophy10.4
42tooth disease10.4
43x-linked spinal-bulbar muscle atrophy10.4
44amyotrophy, neurogenic scapuloperoneal, new england type10.4
45spinal muscular atrophy, lower extremity, autosomal dominant10.4
46werdnig-hoffman disease10.4
47spinal muscular atrophy, distal, autosomal recessive, 510.4
48spinal muscular atrophy, distal, x-linked 310.4
49spinal muscular atrophy - dandy-walker malformation - cataracts10.4
50axonal neuropathy10.4

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



Diseases related to spinal muscular atrophy

Symptoms for Spinal Muscular Atrophy

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Drugs & Therapeutics for Spinal Muscular Atrophy

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42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discoveryâ„¢, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Spinal Muscular Atrophy

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Spinal Muscular Atrophy:

33
Spinal cord, Brain, Testes, Skeletal muscle, Bone, Heart, Lung, Eye

Animal Models for Spinal Muscular Atrophy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.2DDX20, ATP7A, SMN1, NAIP, PLEKHG5, TRPV4
2MP:00053867.1ATP7A, SMN1, VAPB, DYNC1H1, GARS, TRPV4
3MP:00053697.0DYNC1H1, ATP7A, SMN1, VAPB, PLEKHG5, TRPV4
4MP:00036317.0TRPV4, ATP7A, GARS, DYNC1H1, VAPB, NAIP

Publications for Spinal Muscular Atrophy

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52PubMed
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Articles related to Spinal Muscular Atrophy:

(show top 50)    (show all 902)
idTitleAuthorsYear
1
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (24207122)
2013
2
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. (24162038)
2013
3
Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. (23740718)
2013
4
Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. (22490618)
2012
5
Antisense-based therapy for the treatment of spinal muscular atrophy. (23027901)
2012
6
Stem cells in severe infantile spinal muscular atrophy (SMA1). (23206851)
2012
7
SMN-inducing compounds for the treatment of spinal muscular atrophy. (23157239)
2012
8
Stress and coping in parents of children and adolescents with spinal muscular atrophy. (22504774)
2012
9
Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. (21596705)
2011
10
Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. (21335981)
2011
11
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. (21754985)
2011
12
Drug treatment for spinal muscular atrophy type I. (22161399)
2011
13
Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses. (21904622)
2011
14
Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy. (21194946)
2011
15
Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. (20025960)
2010
16
Compound muscle action potential and motor function in children with spinal muscular atrophy. (20737553)
2010
17
Spinal muscular atrophy: diagnosis, treatment and future prospects. (20711542)
2010
18
Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. (20089893)
2010
19
Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy. (20955113)
2010
20
Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. (21057148)
2010
21
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
2009
22
Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
2009
23
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). (19175839)
2009
24
Induced pluripotent stem cells from a spinal muscular atrophy patient. (19098894)
2009
25
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. (19158308)
2009
26
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. (18172693)
2008
27
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. (18266240)
2008
28
Rare missense and synonymous variants in UBE1 are associated with X- linked infantile spinal muscular atrophy. (18179898)
2008
29
Spinal muscular atrophy diagnostics. (17761649)
2007
30
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
2007
31
NAIP-deletion analysis in Malaysian patients with spinal muscular atrophy. (17932457)
2007
32
Spinal muscular atrophy and therapeutic prospects. (17076267)
2006
33
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. (16508748)
2006
34
Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography. (15952118)
2005
35
Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. (15720302)
2005
36
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement. (16000068)
2005
37
Quantitative analysis of SMN gene copies in spinal muscular atrophy]. (15079799)
2004
38
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. (12242541)
2002
39
SMN dosage analysis and risk assessment for spinal muscular atrophy. (11992267)
2002
40
Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
2001
41
Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. (11181573)
2001
42
Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN. (11302690)
2001
43
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
44
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. (10339583)
1999
45
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
46
Gene deletions in spinal muscular atrophy. (8929942)
1996
47
FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13. (9067434)
1996
48
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. (7731968)
1995
49
Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study. (7027754)
1980
50
Contributions to the symptomatology of amyotonia congenita (infantile spinal muscular atrophy). (21026460)
1946

Variations for Spinal Muscular Atrophy

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Expression for genes affiliated with Spinal Muscular Atrophy

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2BioGPS, 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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50PathCards, 55Reactome, 30KEGG, 60Thomson Reuters
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Compounds for genes affiliated with Spinal Muscular Atrophy

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

idCompoundScoreTop Affiliating Genes
1phenylbutyrate459.9SMN2, SMN1
2aclarubicin459.6SMN2, 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
1Gemini of coiled bodiesGO:0975049.9SMN2, DDX20
2SMN complexGO:0327979.8SMN2, DDX20
3SMN-Sm protein complexGO:0347199.7SMN2, DDX20
4secretory granuleGO:0301419.6GARS, ATP7A
5cytosolGO:0058297.5DDX20, ATP7A, SMN2, PLEKHG5, DYNC1H1, GARS

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

idNameGO IDScoreTop Affiliating Genes
1ncRNA metabolic processGO:0346609.7DDX20, SMN2
2spliceosomal snRNP assemblyGO:0003879.5SMN2, DDX20
3cellular calcium ion homeostasisGO:0068749.3TRPV4, VAPB
4cell deathGO:0082197.3TRPV4, GARS, UBA1, DYNC1H1, VAPB, SMN2

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

idNameGO IDScoreTop Affiliating Genes
1beta-tubulin bindingGO:0484879.3TRPV4, VAPB
2ATP bindingGO:0055246.7TRPV4, GARS, UBA1, DYNC1H1, NAIP, ATP7A

Products for genes affiliated with Spinal Muscular Atrophy

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Sources for Spinal Muscular Atrophy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet