MCID: SPN046
MIFTS: 57

Spinal Muscular Atrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Oral diseases categories

Aliases & Classifications for Spinal Muscular Atrophy

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Spinal Muscular Atrophy, Aliases & Descriptions:

Name: Spinal Muscular Atrophy 30 9 63 19 41 20 21 42 11 32 60
Hereditary Motor Neuronopathy 21 60
Progressive Muscular Atrophy 21 60
 
Muscular Atrophy Spinal 43 22
Sma 63 21
Spinal Amyotrophy 21


Classifications:



External Ids:

Disease Ontology9 DOID:12377
MeSH33 D009134
ICD9CM27 335.10, 335.1
NCIt38 C85075

Summaries for Spinal Muscular Atrophy

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NINDS:42 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 based summary: Spinal Muscular Atrophy, also known as hereditary motor neuronopathy, 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:9 A motor neuron disease that is a degenerative neuromuscular disease characterized by motor neuron degeration.

NIH Rare Diseases:41 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:32 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

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.

Wikipedia:63 Proximal spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a genetic defect in... more...

GeneReviews summary for sma

Related Diseases for Spinal Muscular Atrophy

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Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy-1 Spinal Muscular Atrophy-2
Spinal Muscular Atrophy-3 Spinal Muscular Atrophy-4
Adult Spinal Muscular Atrophy Juvenile Spinal Muscular Atrophy
Congenital Benign Spinal Muscular Atrophy Dominant Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

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

(show top 50)    (show all 179)
idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy32.1TRPV4, NAIP, SMN2, SMN1, DDX20
2juvenile spinal muscular atrophy31.6SMN2, SMN1, NAIP
3spinal muscular atrophy-231.4SMN1, NAIP, SMN2
4spinal muscular atrophy-131.2SMN1, NAIP, SMN2
5motor neuron disease30.9NAIP, SMN2, SMN1
6progressive muscular atrophy30.9SMN1
7neuromuscular disease30.7SMN2, NAIP, SMN1
8charcot-marie-tooth disease30.6GARS, TRPV4
9neuropathy30.4SMN1, SMN2, GARS, TRPV4
10amyotrophic lateral sclerosis 130.1SMN2, NAIP, SMN1, VAPB
11neuronitis11.1
12neuronopathy, distal hereditary motor, type vi10.9
13spinal muscular atrophy with progressive myoclonic epilepsy10.7
14spinal muscular atrophy, x-linked 2, infantile10.7
15muscular dystrophy10.7
16adult spinal muscular atrophy10.7
17scapuloperoneal spinal muscular atrophy10.6
18multiple system atrophy10.6
19lateral sclerosis10.6
20spinal muscular atrophy-410.6
21spinal muscular atrophy, late-onset, finkel type10.6
22spinal muscular atrophy, lower extremity-predominant 1, ad10.6
23scoliosis10.6
24spinal muscular atrophy, distal, congenital nonprogressive10.5
25neuropathy, distal hereditary motor, jerash type10.5
26spinal muscular atrophy, lower extremity-predominant, 2, ad10.5
27adult progressive spinal muscular atrophy aran duchenne type10.5
28autosomal dominant congenital benign spinal muscular atrophy10.5
29distal spinal muscular atrophy type 310.5
30autosomal dominant childhood-onset proximal spinal muscular atrophy10.5
31proximal spinal muscular atrophy type 410.5
32spinal muscular atrophy, distal, x-linked 310.5
33survival motor neuron spinal muscular atrophy10.5
34blindness10.5
35autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures10.5
36autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures10.5
37spinal muscular atrophy with respiratory distress type 210.5
38spinal muscular atrophy, distal, autosomal recessive, 410.5
39spinal muscular atrophy, distal, autosomal recessive, 510.5
40neuronopathy, distal hereditary motor, type i10.5
41spinal muscular atrophy, jokela type10.5
42duchenne muscular dystrophy10.5
43monomelic amyotrophy10.5
44spinal muscular atrophy ryukyuan type10.5
45distal hereditary motor neuropathy type v10.5
46autosomal recessive lower motor neuron disease with childhood onset10.5
47adult-onset proximal spinal muscular atrophy, autosomal dominant10.5
48spinal muscular atrophy - dandy-walker malformation - cataracts10.5
49becker muscular dystrophy10.4
50tooth disease10.4

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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Drug clinical trials:

Search ClinicalTrials for Spinal Muscular Atrophy

Search NIH Clinical Center for Spinal Muscular Atrophy

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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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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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MalaCards organs/tissues related to Spinal Muscular Atrophy:

31
Spinal cord, Brain, Testes, Skeletal muscle, Bone, Heart, Lung, Eye, Tongue

Animal Models for Spinal Muscular Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.2TRPV4, PLEKHG5, NAIP, SMN1, ATP7A, DDX20
2MP:00053867.1ATP7A, SMN1, VAPB, DYNC1H1, GARS, TRPV4
3MP:00053697.0TRPV4, ATP7A, SMN1, VAPB, PLEKHG5, DYNC1H1
4MP:00036317.0ATP7A, SMN1, NAIP, VAPB, DYNC1H1, GARS

Publications for Spinal Muscular Atrophy

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Articles related to Spinal Muscular Atrophy:

(show top 50)    (show all 958)
idTitleAuthorsYear
1
Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. (25847462)
2015
2
GEMINs: potential therapeutic targets for spinal muscular atrophy? (25360080)
2014
3
A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry. (25264200)
2014
4
ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets. (25221469)
2014
5
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (24207122)
2013
6
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
7
Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. (23740718)
2013
8
Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. (22490618)
2012
9
Antisense-based therapy for the treatment of spinal muscular atrophy. (23027901)
2012
10
Stem cells in severe infantile spinal muscular atrophy (SMA1). (23206851)
2012
11
SMN-inducing compounds for the treatment of spinal muscular atrophy. (23157239)
2012
12
Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. (21596705)
2011
13
Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. (21335981)
2011
14
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
15
Drug treatment for spinal muscular atrophy type I. (22161399)
2011
16
Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. (20025960)
2010
17
Compound muscle action potential and motor function in children with spinal muscular atrophy. (20737553)
2010
18
Spinal muscular atrophy: diagnosis, treatment and future prospects. (20711542)
2010
19
Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. (20089893)
2010
20
Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy. (20955113)
2010
21
Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. (21057148)
2010
22
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
2009
23
Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
2009
24
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). (19175839)
2009
25
Induced pluripotent stem cells from a spinal muscular atrophy patient. (19098894)
2009
26
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. (19158308)
2009
27
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. (18172693)
2008
28
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. (18266240)
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
Gait recovery in a distal spinal muscular atrophy patient wearing a patellar tendon-bearing orthosis and orthopaedic shoes. (17351703)
2007
32
NAIP-deletion analysis in Malaysian patients with spinal muscular atrophy. (17932457)
2007
33
Spinal muscular atrophy and therapeutic prospects. (17076267)
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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Search GEO for disease gene expression data for Spinal Muscular Atrophy.

Pathways for genes affiliated with Spinal Muscular Atrophy

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Compounds for genes affiliated with Spinal Muscular Atrophy

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Sources:
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Compounds related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1phenylbutyrate439.9SMN2, SMN1
2aclarubicin439.6SMN2, SMN1

GO Terms for genes affiliated with Spinal Muscular Atrophy

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Cellular components related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Gemini of coiled bodiesGO:00975049.9SMN2, DDX20
2SMN complexGO:00327979.8SMN2, DDX20
3SMN-Sm protein complexGO:00347199.7SMN2, DDX20
4secretory granuleGO:00301419.6GARS, ATP7A
5cytosolGO:00058297.5DDX20, ATP7A, SMN2, PLEKHG5, DYNC1H1, GARS

Biological processes related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ncRNA metabolic processGO:00346609.7DDX20, SMN2
2spliceosomal snRNP assemblyGO:00003879.5SMN2, DDX20
3cellular calcium ion homeostasisGO:00068749.3TRPV4, VAPB
4cell deathGO:00082197.3TRPV4, GARS, UBA1, DYNC1H1, VAPB, SMN2

Molecular functions related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1beta-tubulin bindingGO:00484879.3TRPV4, VAPB
2ATP bindingGO:00055246.7TRPV4, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet