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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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 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, Skin, Eye, Tongue

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
Predicted and Measured Resting Energy Expenditure in Children with Spinal Muscular Atrophy 2. (24423433)
2014
2
Pilot trial of clenbuterol in spinal and bulbar muscular atrophy. (23645595)
2013
3
Type III spinal muscular atrophy mimicking muscular dystrophies. (23583053)
2013
4
Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production. (23839956)
2013
5
SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe. (23514578)
2013
6
Current status of treatment of spinal and bulbar muscular atrophy. (22720173)
2012
7
Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns. (21950724)
2012
8
Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. (22424789)
2012
9
Vital capacity in spinal muscular atrophy. (22469873)
2012
10
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. (22558154)
2012
11
Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan(Ar) real-time PCR. (23412967)
2012
12
Heterogeneity in spinal muscular atrophy with respiratory distress type 1. (23560007)
2012
13
Difference in chronological changes of outcome measures between untreated and placebo-treated patients of spinal and bulbar muscular atrophy. (21952871)
2012
14
Stem cells in severe infantile spinal muscular atrophy. (23206850)
2012
15
Corticomotoneuronal integrity and adaptation in spinal muscular atrophy. (22491191)
2012
16
Developments in the discovery of drugs for spinal muscular atrophy: successful beginnings and future prospects. (22651125)
2011
17
A young man with spinal muscular atrophy and impending respiratory arrest. (22810793)
2011
18
Neurogenic muscle hypertrophy in type III spinal muscular atrophy. (21742346)
2011
19
Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. (20025960)
2010
20
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. (20097677)
2010
21
Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate. (20373854)
2010
22
Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. (20176735)
2010
23
Genetic therapy for spinal muscular atrophy. (20212484)
2010
24
Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy. (20855858)
2010
25
Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. (19259967)
2009
26
Conservative care of temporomandibular joint disorder in a 35-year-old patient with spinal muscular atrophy type III: a case study. (19948309)
2009
27
An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. (19760790)
2009
28
Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy. (19427208)
2009
29
Brachial amyotrophic diplegia (segmental proximal spinal muscular atrophy) associated with HIV infection. (19010950)
2008
30
Prenatal diagnosis of spinal muscular atrophy in Macedonian families. (18752447)
2008
31
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. (18178576)
2008
32
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. (17609673)
2007
33
Eosinophil-derived neurotoxin as a new additional clinical marker in spinal muscular atrophies]. (16944726)
2006
34
Association of severity of spinal muscular atrophy with the loss of NAIP gene. (16936378)
2006
35
A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1. (15797190)
2005
36
Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. (10655542)
2000
37
Identification of a novel missense mutation of the smnt gene in two siblings with spinal muscular atrophy. (10732802)
1998
38
Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion? (9391899)
1997
39
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. (8926495)
1996
40
Transcriptional activation by the androgen receptor in X-linked spinal and bulbar muscular atrophy. (8902713)
1996
41
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family. (8786072)
1996
42
A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype. (7898712)
1995
43
Expression of developmentally regulated cytoskeleton and cell surface proteins in childhood spinal muscular atrophies. (8583219)
1995
44
Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5. (7818533)
1995
45
Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia. (8008830)
1994
46
Animal model of human disease: Werdnig-Hoffmann disease (infantile spinal muscular atrophy). (7416238)
1980
47
Differential diagnosis of limb-girdle muscular dystrophy and spinal muscular atrophy. (572945)
1979
48
Animal model of human disease. Infantile spinal muscular atrophy, Werdnig-Hoffman disease. Animal model: Hereditary neuronal abiotrophy in Swedish Lapland dogs. (1258980)
1976
49
Chronic generalized spinal muscular atrophy of infancy and childhood. Arrested Werdnig-Hoffman disease. (4749680)
1973
50
Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5933049)
1966

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