SMA
MCID: SPN046
MIFTS: 65

Spinal Muscular Atrophy (SMA) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Spinal Muscular Atrophy

Aliases & Descriptions for Spinal Muscular Atrophy:

Name: Spinal Muscular Atrophy 38 12 71 23 50 24 24 24 25 51 29 41 14 69
Hereditary Motor Neuronopathy 25 69
Progressive Muscular Atrophy 25 69
Sma 24 25
Juvenile Spinal Muscular Atrophy 69
Kugelberg-Welander Disease 24
Werdnig-Hoffmann Disease 24
Muscular Atrophy, Spinal 42
Muscular Atrophy Spinal 52
Hmn Proximal Type I 69
Spinal Amyotrophy 25
Smn 24

Classifications:



External Ids:

Disease Ontology 12 DOID:12377
ICD10 33 G12.9
ICD9CM 35 335.1 335.10
MeSH 42 D009134
NCIt 47 C85075
UMLS 69 C0026847

Summaries for Spinal Muscular Atrophy

NINDS : 51 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.  The lower extremities are most often affected.  Complications include scoliosis and chronic shortening of muscles or tendons around joints.  

MalaCards based summary : Spinal Muscular Atrophy, also known as hereditary motor neuronopathy, is related to spinal muscular atrophy-4 and spinal muscular atrophy-3, and has symptoms including back pain, headache and pain. An important gene associated with Spinal Muscular Atrophy is IGHMBP2 (Immunoglobulin Mu Binding Protein 2), and among its related pathways/superpathways are RNA transport and COPI-independent Golgi-to-ER retrograde traffic. The drugs Acetylcholine and Goserelin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes, and related phenotype is mortality/aging.

Disease Ontology : 12 A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.

Genetics Home Reference : 25 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 : 50 spinal muscular atrophy (sma) refers to a group of inherited conditions that affect the muscles. the severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. in general, people with sma experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. breathing and swallowing may also be affected in severe cases. sma is generally caused by changes (mutations) in the smn1 gene and is inherited in an autosomal recessive manner. extra copies of the smn2 gene modify the severity of sma. rare autosomal dominant (caused by mutations in dync1h1,  bicd2, or vapb genes) and x-linked (caused by mutations in uba1) forms of sma exist. treatment is based on the signs and symptoms present in each person. last updated: 2/17/2017

MedlinePlus : 41 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 : 71 Spinal muscular atrophy (SMA), also called autosomal recessive proximal spinal muscular atrophy and 5q... more...

GeneReviews: NBK1352

Related Diseases for Spinal Muscular Atrophy

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

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

(show top 50) (show all 158)
id Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy-4 33.7 NAIP SMN1 SMN2
2 spinal muscular atrophy-3 33.1 IGHMBP2 NAIP SCO2 SMN1 SMN2 ZPR1
3 spinal muscular atrophy, lower extremity-predominant, 2, ad 12.6
4 scapuloperoneal spinal muscular atrophy 12.5
5 spinal muscular atrophy, x-linked 2, infantile 12.5
6 spinal muscular atrophy, lower extremity-predominant 1, ad 12.5
7 spinal muscular atrophy, late-onset, finkel type 12.5
8 spinal muscular atrophy, distal, autosomal recessive, 2 12.5
9 spinal muscular atrophy with progressive myoclonic epilepsy 12.5
10 spinal muscular atrophy, distal, autosomal recessive, 4 12.4
11 spinal muscular atrophy, distal, x-linked 3 12.4
12 spinal muscular atrophy, distal, autosomal recessive, 5 12.4
13 spinal muscular atrophy, jokela type 12.4
14 survival motor neuron spinal muscular atrophy 12.4
15 spinal muscular atrophy, distal, autosomal recessive, 3 12.4
16 proximal spinal muscular atrophy 12.3
17 spinal muscular atrophy, distal, congenital nonprogressive 12.3
18 spinal muscular atrophy type 1 with congenital bone fractures 12.3
19 juvenile spinal muscular atrophy 12.3
20 neuronopathy, distal hereditary motor, type vi 12.2
21 adult spinal muscular atrophy 12.2
22 spinal muscular atrophy with respiratory distress type 2 12.2
23 spinal muscular atrophy-2 12.2
24 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.1
25 spinal muscular atrophy-1 12.1
26 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.1
27 spinal muscular atrophy, lower extremity, autosomal dominant 12.1
28 spinal muscular atrophy ryukyuan type 12.0
29 adult progressive spinal muscular atrophy aran duchenne type 12.0
30 distal spinal muscular atrophy 4 12.0
31 arthrogryposis spinal muscular atrophy 12.0
32 congenital benign spinal muscular atrophy dominant 12.0
33 neuronopathy, distal hereditary motor, type i 11.8
34 amyotrophy, monomelic 11.7
35 distal hereditary motor neuropathy type v 11.6
36 pontocerebellar hypoplasia type 1a 11.6
37 spinal and bulbar muscular atrophy of kennedy 11.5
38 pontocerebellar hypoplasia type 1 11.5
39 motor neuron disease 11.4
40 distal hereditary motor neuropathy, type ii 11.4
41 progressive muscular atrophy 11.3
42 spinal atrophy ophthalmoplegia pyramidal syndrome 11.3
43 distal hereditary motor neuropathy type 7 11.3
44 neuropathy, distal hereditary motor, type va 11.3
45 muscular atrophy 11.2
46 distal hereditary motor neuropathy 11.2
47 neuromuscular disease 11.2
48 neuronopathy, distal hereditary motor, type vb 11.1
49 neuronopathy, distal hereditary motor, type iid 11.0
50 neuronopathy, distal hereditary motor, type viia 11.0

Comorbidity relations with Spinal Muscular Atrophy via Phenotypic Disease Network (PDN):


Acute Cystitis

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



Diseases related to Spinal Muscular Atrophy

Symptoms & Phenotypes for Spinal Muscular Atrophy

UMLS symptoms related to Spinal Muscular Atrophy:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness, muscle cramp

MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 MAP1B SCO2 SMN2 ZPR1 ASAH1 ATP7A

Drugs & Therapeutics for Spinal Muscular Atrophy

Drugs for Spinal Muscular Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 108)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4 51-84-3 187
2
Goserelin Approved Phase 4 65807-02-5 47725 5311128
3 Cholinergic Agents Phase 4,Phase 2
4 Neuromuscular Agents Phase 4
5 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
6 Peripheral Nervous System Agents Phase 4,Phase 2,Early Phase 1
7 abobotulinumtoxinA Phase 4
8 incobotulinumtoxinA Phase 4
9 onabotulinumtoxinA Phase 4
10 rimabotulinumtoxinB Phase 4
11 Antineoplastic Agents, Hormonal Phase 4,Phase 2
12 Botulinum Toxins Phase 4
13 Botulinum Toxins, Type A Phase 4
14
Hydroxyurea Approved Phase 2, Phase 3,Phase 1 127-07-1 3657
15
Valproic Acid Approved, Investigational Phase 3,Phase 2,Phase 1 99-66-1 3121
16 Piracetam Approved Phase 3,Phase 2 7491-74-9
17
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
18
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
19
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 5460373 44475014
20
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
21
Armodafinil Approved, Investigational Phase 3 112111-43-0
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
23
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
24 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
25 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1,Early Phase 1
26 GABA Agents Phase 3,Phase 2,Phase 1
27 Neuroprotective Agents Phase 2, Phase 3
28 Trace Elements Phase 2, Phase 3
29 Tranquilizing Agents Phase 3,Phase 2,Phase 1
30 Vitamin B 12 Phase 2, Phase 3
31 Vitamin B Complex Phase 2, Phase 3
32 Vitamins Phase 2, Phase 3
33 Potassium Channel Blockers Phase 2, Phase 3
34 Immunoglobulins Phase 2, Phase 3
35 gamma-Globulins Phase 2, Phase 3
36 Excitatory Amino Acid Antagonists Phase 2, Phase 3
37 Excitatory Amino Acids Phase 2, Phase 3
38 Immunoglobulins, Intravenous Phase 2, Phase 3
39 Anticonvulsants Phase 2, Phase 3, Phase 1
40 Protective Agents Phase 2, Phase 3
41 Psychotropic Drugs Phase 3,Phase 2,Phase 1
42 Antimanic Agents Phase 3,Phase 2,Phase 1
43 Rho(D) Immune Globulin Phase 2, Phase 3
44 Antibodies Phase 2, Phase 3
45 Micronutrients Phase 2, Phase 3
46 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
47 Cytochrome P-450 CYP3A Inducers Phase 3
48 Wakefulness-Promoting Agents Phase 3
49 Central Nervous System Stimulants Phase 3
50 carnitine Nutraceutical Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 163)
id Name Status NCT ID Phase
1 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4
2 Myobloc Atrophy Study Completed NCT02052024 Phase 4
3 Different Efficacy Between Rehabilitation Therapy and Stem Cells Transplantation in Patients With SCI in China Unknown status NCT01873547 Phase 3
4 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA) Completed NCT02292537 Phase 3
5 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3
6 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy Completed NCT02193074 Phase 3
7 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3
8 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3
9 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3
10 Post-Poliosyndrome Treated With Intravenous Immunoglobulin (IvIg) Completed NCT00231439 Phase 2, Phase 3
11 Intravenous Immunoglobulins for Post-Polio Syndrome Completed NCT01537575 Phase 3
12 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Recruiting NCT01671384 Phase 3
13 Study of the Efficacy and Safety of Immune Globulin Intravenous (Human) Flebogamma® 5% DIF in Patients With Post-polio Syndrome Recruiting NCT02176863 Phase 2, Phase 3
14 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Active, not recruiting NCT00445172 Phase 2, Phase 3
15 L-Citrulline in Patients With Post-Polio Syndrome Active, not recruiting NCT02801071 Phase 3
16 A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies. Enrolling by invitation NCT02594124 Phase 3
17 Modafinil to Treat Fatigue in Post-Polio Syndrome Terminated NCT00067496 Phase 3
18 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
19 A Randomized, Double Blind, Placebo Controlled Trial L-carnitine and Piracetam in the Treatment of Weakness, Muscle Fatigue and Muscle Pain in the Postpoliomyelitis Syndrome Withdrawn NCT01549847 Phase 3
20 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2
21 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2
22 Difference Between Rehabilitation Therapy and Stem Cells Transplantation in Patients With Spinal Cord Injury in China Unknown status NCT01393977 Phase 2
23 Transcranial Direct Current Stimulation as a Novel Therapeutic Approach in Amyotrophic Lateral Sclerosis Unknown status NCT01569958 Phase 2
24 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2
25 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Completed NCT00227266 Phase 2
26 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Completed NCT00481013 Phase 2
27 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2
28 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I Completed NCT00661453 Phase 1, Phase 2
29 An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Completed NCT01703988 Phase 1, Phase 2
30 Pilot Study of Growth Hormon to Treat SMA Typ II and III Completed NCT00533221 Phase 2
31 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2
32 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2
33 Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
34 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
35 Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy Completed NCT02024932 Phase 2
36 Dutasteride to Treat Spinal and Bulbar Muscular Atrophy (SBMA) Completed NCT00303446 Phase 2
37 Effect of Functional Exercise in Patients With Spinal Bulbar Muscular Atrophy Completed NCT01369901 Phase 1, Phase 2
38 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy (Firefish) Recruiting NCT02913482 Phase 2
39 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Participants (Sunfish) Recruiting NCT02908685 Phase 2
40 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy Recruiting NCT02644668 Phase 2
41 A Study of RO7034067 in Adult and Pediatric Participants With Spinal Muscular Atrophy Recruiting NCT03032172 Phase 2
42 Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 Recruiting NCT02227823 Phase 2
43 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Recruiting NCT02941328 Phase 2
44 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
45 Comparing Functional Outcomes in Individuals Using Micro-processor Controlled Orthosis Versus Stance Control Orthosis Recruiting NCT02089880 Phase 2
46 An Open Label Study of LMI070 in Type 1 Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02268552 Phase 1, Phase 2
47 A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT01839656 Phase 2
48 A Study of Multiple Doses of Nusinersen (ISIS 396443) Delivered to Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy Active, not recruiting NCT02386553 Phase 2
49 A Study to Assess the Safety and Tolerability of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA). Active, not recruiting NCT02462759 Phase 2
50 A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Participants With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02628743 Phase 2

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

Cochrane evidence based reviews: muscular atrophy, spinal

Genetic Tests for Spinal Muscular Atrophy

Genetic tests related to Spinal Muscular Atrophy:

id Genetic test Affiliating Genes
1 Spinal Muscular Atrophy 29 24 SMN2
2 Spinal Muscular Atrophy (smn1) 24 SMN1
3 Spinal Muscular Atrophy (smn2) 24 SMN2

Anatomical Context for Spinal Muscular Atrophy

MalaCards organs/tissues related to Spinal Muscular Atrophy:

39
Spinal Cord, Brain, Testes, Bone, Skeletal Muscle, Heart, Tongue

Publications for Spinal Muscular Atrophy

Articles related to Spinal Muscular Atrophy:

(show top 50) (show all 1106)
id Title Authors Year
1
A qualitative study of perceptions of meaningful change in spinal muscular atrophy. ( 28376816 )
2017
2
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. ( 28460889 )
2017
3
Adult-onset spinal muscular atrophy: An update. ( 28456383 )
2017
4
Combination of valproic acid and morpholino splice-switching oligonucleotide produces improved outcomes in spinal muscular atrophy patient-derived fibroblasts. ( 28389270 )
2017
5
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. ( 28132687 )
2017
6
Raise the Roof: Boosting the Efficacy of a Spinal Muscular Atrophy Therapy. ( 28056344 )
2017
7
A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. ( 28460014 )
2017
8
Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. ( 27279027 )
2017
9
Oligodendrocyte development and CNS myelination are unaffected in a mouse model of severe spinal muscular atrophy. ( 28069797 )
2017
10
The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy. ( 28017471 )
2017
11
Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy. ( 27754957 )
2017
12
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy. ( 28426667 )
2017
13
Longitudinal characterization of biomarkers for spinal muscular atrophy. ( 28491897 )
2017
14
Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models. ( 28463115 )
2017
15
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. ( 28251733 )
2017
16
Newborn screening for spinal muscular atrophy: The views of affected families and adults. ( 28374951 )
2017
17
SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of Spinal Muscular Atrophy. ( 28062667 )
2017
18
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. ( 27939059 )
2017
19
Discovery of a Small Molecule Probe That Post-Translationally Stabilizes the Survival Motor Neuron Protein for the Treatment of Spinal Muscular Atrophy. ( 28481536 )
2017
20
Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice. ( 28379354 )
2017
21
Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy. ( 28504671 )
2017
22
Design of Potent mRNA Decapping Scavenger Enzyme (DcpS) Inhibitors with Improved Physicochemical Properties To Investigate the Mechanism of Therapeutic Benefit in Spinal Muscular Atrophy (SMA). ( 28257199 )
2017
23
Cardiac pathology in spinal muscular atrophy: a systematic review. ( 28399889 )
2017
24
Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. ( 28384258 )
2017
25
Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. ( 28522225 )
2017
26
Another milestone in childhood spinal muscular atrophy. ( 28460890 )
2017
27
An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA). ( 28468263 )
2017
28
Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis: a genomics perspective. ( 28054357 )
2017
29
ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy. ( 28400976 )
2017
30
Discovery of a Novel Class of Survival Motor Neuron 2 Splicing Modifiers for the Treatment of Spinal Muscular Atrophy. ( 28441483 )
2017
31
Dawn of a new therapeutic era for spinal muscular atrophy. ( 27939062 )
2017
32
How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. ( 28485722 )
2017
33
Sensory Neuronopathy in Spinal Muscular Atrophy: A Case Presentation. ( 27552391 )
2016
34
Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy. ( 27005422 )
2016
35
Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy. ( 27599922 )
2016
36
Spinal Muscular Atrophy, types I and II: What are the differences inA body composition and resting energy expenditure? ( 27890489 )
2016
37
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy. ( 27652289 )
2016
38
What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients. ( 27854231 )
2016
39
Spinal Muscular Atrophy: More than a Disease of Motor Neurons? ( 27894243 )
2016
40
Six-Minute Walk Test is Reliable and Valid in Spinal Muscular Atrophy. ( 27015431 )
2016
41
A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls. ( 27893852 )
2016
42
Spinal muscular atrophy associated with progressive myoclonic epilepsy. ( 27647482 )
2016
43
Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. ( 27014701 )
2016
44
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. ( 26948711 )
2016
45
Management of scoliosis in patients with Duchenne muscular dystrophy and spinal muscular atrophy: A literature review. ( 26966797 )
2016
46
Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy. ( 27042141 )
2016
47
Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy. ( 26931466 )
2016
48
Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset. ( 26758873 )
2016
49
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. ( 27928163 )
2016
50
Targeted sequencing of maternal plasma for haplotype-based noninvasive prenatal testing of spinal muscular atrophy. ( 27102838 )
2016

Variations for Spinal Muscular Atrophy

ClinVar genetic disease variations for Spinal Muscular Atrophy:

6 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1 SMN2 NM_017411.3(SMN2): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic,risk factor rs121909192 GRCh37 Chromosome 5, 69372372: 69372372
2 IGHMBP2 NM_002180.2(IGHMBP2): c.1540G> A (p.Glu514Lys) single nucleotide variant Pathogenic rs137852665 GRCh37 Chromosome 11, 68701934: 68701934
3 IGHMBP2 NM_002180.2(IGHMBP2): c.638A> G (p.His213Arg) single nucleotide variant Pathogenic rs137852666 GRCh37 Chromosome 11, 68678998: 68678998
4 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
5 IGHMBP2 NM_002180.2(IGHMBP2): c.121C> T (p.Gln41Ter) single nucleotide variant Pathogenic rs137852668 GRCh37 Chromosome 11, 68673571: 68673571
6 IGHMBP2 NM_002180.2(IGHMBP2): c.675delT (p.Glu226Argfs) deletion Pathogenic rs786205089 GRCh38 Chromosome 11, 68911567: 68911567
7 IGHMBP2 NM_002180.2(IGHMBP2): c.707T> G (p.Leu236Ter) single nucleotide variant Pathogenic rs137852669 GRCh37 Chromosome 11, 68679067: 68679067
8 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic rs786205090 GRCh38 Chromosome 11, 68937092: 68937092
9 IGHMBP2 NM_002180.2(IGHMBP2): c.1107C> G (p.Phe369Leu) single nucleotide variant Pathogenic rs137852670 GRCh37 Chromosome 11, 68696697: 68696697
10 IGHMBP2 NG_007976.1: g.(7904_7936)_(26407_26439)del deletion Pathogenic GRCh38 Chromosome 11, 68906754: 68925289
11 SMN1 SMN1, 11-BP DUP, 801-811 duplication Pathogenic
12 SMN1 NM_000344.3(SMN1): c.821C> T (p.Thr274Ile) single nucleotide variant Pathogenic rs76871093 GRCh37 Chromosome 5, 70241990: 70241990
13 SMN1 NM_000344.3(SMN1): c.785G> T (p.Ser262Ile) single nucleotide variant Pathogenic rs75660264 GRCh37 Chromosome 5, 70241954: 70241954
14 SMN1 NM_000344.3(SMN1): c.815A> G (p.Tyr272Cys) single nucleotide variant Pathogenic rs104893922 GRCh37 Chromosome 5, 70241984: 70241984
15 SMN1 NM_000344.3(SMN1): c.836G> T (p.Gly279Val) single nucleotide variant Pathogenic rs76163360 GRCh37 Chromosome 5, 70247769: 70247769
16 SMN1 NM_000344.3(SMN1): c.5C> G (p.Ala2Gly) single nucleotide variant Pathogenic rs75030631 GRCh37 Chromosome 5, 70220935: 70220935
17 SMN1 SMN1, EX8DEL deletion Pathogenic
18 SMN1 SMN1, IVS7DS, T-G, +6 single nucleotide variant Pathogenic
19 SMN1 SMN1, 5-BP DEL, 425 deletion Pathogenic
20 SMN1 NM_000344.3(SMN1): c.131A> T (p.Asp44Val) single nucleotide variant Pathogenic rs104893931 GRCh37 Chromosome 5, 70234715: 70234715
21 SMN1 NM_000344.3(SMN1): c.305G> A (p.Trp102Ter) single nucleotide variant Pathogenic rs77804083 GRCh37 Chromosome 5, 70238216: 70238216
22 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
23 SMN1 NM_000344.3(SMN1): c.283G> C (p.Gly95Arg) single nucleotide variant Pathogenic rs104893927 GRCh37 Chromosome 5, 70238194: 70238194
24 SMN1 NM_000344.3(SMN1): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs104893935 GRCh37 Chromosome 5, 70238243: 70238243
25 SMN1 NM_000344.3(SMN1): c.784A> G (p.Ser262Gly) single nucleotide variant Pathogenic rs104893932 GRCh37 Chromosome 5, 70241953: 70241953
26 SMN1 NM_000344.3(SMN1): c.346A> T (p.Ile116Phe) single nucleotide variant Pathogenic rs104893933 GRCh37 Chromosome 5, 70238257: 70238257
27 SMN1 NM_000344.3(SMN1): c.406C> G (p.Gln136Glu) single nucleotide variant Pathogenic rs104893934 GRCh37 Chromosome 5, 70238317: 70238317
28 SMN1 NM_000344.3(SMN1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs397514517 GRCh37 Chromosome 5, 70238300: 70238300
29 SMN1 NM_000344.3(SMN1): c.388T> C (p.Tyr130His) single nucleotide variant Pathogenic rs397514518 GRCh37 Chromosome 5, 70238299: 70238299
30 SMN1 SMN1, DEL deletion Pathogenic
31 DYNC1H1 NM_001376.4(DYNC1H1): c.791G> T (p.Arg264Leu) single nucleotide variant Pathogenic rs713993043 GRCh38 Chromosome 14, 101980380: 101980380

Copy number variations for Spinal Muscular Atrophy from CNVD:

7 (show all 22)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 56865 11 61700000 63400000 Gain or loss BSCL2 Spinal muscular atrophy
2 57464 11 63400000 77100000 Copy number BSCL2 Spinal muscular atrophy
3 198524 5 25700000 76400000 Deletion SMN1 Spinal muscular atrophy
4 199998 5 464244 70285525 Copy number SMN2 Spinal muscular atrophy
5 199999 5 464244 70285525 Copy number SMN2 Spinal muscular atrophy
6 200000 5 464244 70285525 Deletion SMN Spinal muscular atrophy
7 200001 5 464244 70285525 Deletion SMN2 Spinal muscular atrophy
8 201211 5 66700000 76900000 Amplification Spinal muscular atrophy
9 201213 5 66700000 76900000 Copy number SMN1 Spinal muscular atrophy
10 201214 5 66700000 76900000 Copy number SMN2 Spinal muscular atrophy
11 201215 5 66700000 76900000 Deletion SMN2 Spinal muscular atrophy
12 201332 5 68400000 73300000 Gain or loss SMA3 Spinal muscular atrophy
13 201333 5 68400000 73300000 Gain or loss SMA4 Spinal muscular atrophy
14 201334 5 68400000 73300000 Gain or loss SMN1 Spinal muscular atrophy
15 201335 5 68400000 73300000 Copy number SMA3 Spinal muscular atrophy
16 201336 5 68400000 73300000 Copy number SMA3 Spinal muscular atrophy
17 201337 5 68400000 73300000 Copy number SMA4 Spinal muscular atrophy
18 201338 5 68400000 73300000 Copy number SMA4 Spinal muscular atrophy
19 201473 5 69345349 70249769 Copy number SMN Spinal muscular atrophy
20 201474 5 69345349 70249769 Copy number SMN2 Spinal muscular atrophy
21 201475 5 69345349 70249769 Copy number SMN2 Spinal muscular atrophy
22 201476 5 69345349 70249769 Deletion SMN1 Spinal muscular atrophy

Expression for Spinal Muscular Atrophy

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

Pathways for Spinal Muscular Atrophy

Pathways related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.16 DDX20 GEMIN2 SMN1 SMN2
2 10.4 BICD2 DYNC1H1

GO Terms for Spinal Muscular Atrophy

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

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 IGHMBP2 MAP1B SMN1 SMN2 TRPV4 ZPR1
2 perikaryon GO:0043204 9.72 ATP7A NAIP SMN1 SMN2 ZPR1
3 neuron projection GO:0043005 9.71 ATP7A NAIP SMN1 SMN2
4 growth cone GO:0030426 9.61 IGHMBP2 TRPV4 ZPR1
5 SMN-Sm protein complex GO:0034719 9.56 DDX20 GEMIN2 SMN1 SMN2
6 Cajal body GO:0015030 9.55 COIL SMN1 SMN2 SMNDC1 ZPR1
7 cytoplasmic ribonucleoprotein granule GO:0036464 9.46 SMN1 SMN2
8 Gemini of coiled bodies GO:0097504 9.35 DDX20 GEMIN2 SMN1 SMN2 ZPR1
9 SMN complex GO:0032797 9.1 DDX20 GEMIN2 IGHMBP2 SMN1 SMN2 ZPR1

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

id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.83 MAP1B NAIP SERF1A SMN1 SMN2
2 mRNA processing GO:0006397 9.73 DDX20 GEMIN2 SMN1 SMN2 SMNDC1 ZPR1
3 RNA splicing GO:0008380 9.63 DDX20 GEMIN2 SMN1 SMN2 SMNDC1 ZPR1
4 spliceosomal complex assembly GO:0000245 9.5 GEMIN2 SMN1 SMN2
5 RNA splicing, via transesterification reactions GO:0000375 9.48 GEMIN2 SMNDC1
6 copper ion transport GO:0006825 9.46 ATP7A SCO2
7 cellular copper ion homeostasis GO:0006878 9.4 ATP7A SCO2
8 DNA-templated transcription, termination GO:0006353 9.37 SMN1 SMN2
9 spliceosomal snRNP assembly GO:0000387 9.26 DDX20 GEMIN2 SMN1 SMN2
10 nuclear import GO:0051170 8.92 DDX20 GEMIN2 SMN1 SMN2

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

id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.7 ATP7A DDX20 DYNC1H1 IGHMBP2 NAIP TRPV4
2 protein binding GO:0005515 9.55 ATP7A BICD2 COIL DDX20 DYNC1H1 GEMIN2
3 dynein light intermediate chain binding GO:0051959 8.96 BICD2 DYNC1H1

Sources for Spinal Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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