MCID: SPN046
MIFTS: 63

Spinal Muscular Atrophy

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

Aliases & Classifications for Spinal Muscular Atrophy

MalaCards integrated aliases for Spinal Muscular Atrophy:

Name: Spinal Muscular Atrophy 38 12 76 24 53 25 54 37 29 6 43 15 73
Hereditary Motor Neuronopathy 25 73
Progressive Muscular Atrophy 25 73
Sma 53 25
Atrophy, Muscular, Spinal 40
Muscular Atrophy, Spinal 44
Muscular Atrophy Spinal 55
Spinal Amyotrophy 25

Classifications:



External Ids:

Disease Ontology 12 DOID:12377
ICD10 33 G12.9
ICD9CM 35 335.1 335.10
MeSH 44 D009134
NCIt 50 C85075
KEGG 37 H00455

Summaries for Spinal Muscular Atrophy

NINDS : 54 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, type iv and spinal muscular atrophy, type ii, and has symptoms including back pain, headache and pain. An important gene associated with Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways are RNA transport and COPI-independent Golgi-to-ER retrograde traffic. The drugs Valproic Acid and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, testes and brain, and related phenotypes are Decreased viability and Decreased viability

NIH Rare Diseases : 53 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.

MedlinePlus : 43 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 : 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.

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.

Wikipedia : 76 Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by loss of motor neurons... more...

GeneReviews: NBK1352

Related Diseases for Spinal Muscular Atrophy

Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Type Iii
Spinal Muscular Atrophy, Type Ii Spinal Muscular Atrophy, Type Iv
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 175)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type iv 35.6 SMN1 SMN2 VAPB
2 spinal muscular atrophy, type ii 35.4 NAIP SMN1 SMN2
3 spinal muscular atrophy, type iii 35.4 NAIP SMN1 SMN2
4 spinal muscular atrophy, type i 35.3 IGHMBP2 NAIP SMN1 SMN2
5 survival motor neuron spinal muscular atrophy 35.2 NAIP SMN1 SMN2
6 juvenile spinal muscular atrophy 35.1 NAIP SMN1 SMN2 VAPB
7 spinal muscular atrophy with lower extremity predominance 35.0 BICD2 DYNC1H1
8 proximal spinal muscular atrophy 34.8 BICD2 NAIP SMN1 SMN2 SMNDC1
9 prenatal-onset spinal muscular atrophy with congenital bone fractures 34.3 ASCC1 TRIP4
10 progressive muscular atrophy 33.7 SMN1 SMN2 TRPV4
11 motor neuron disease 33.5 DYNC1H1 NAIP SMN1 SMN2 VAPB
12 neuromuscular disease 33.1 NAIP SMN1 SMN2 TRPV4
13 spinal disease 32.7 NAIP SMN1 SMN2
14 amyotrophic lateral sclerosis 1 31.6 DNAJB2 NAIP SMN1 SMN2 VAPB
15 tooth disease 31.0 DYNC1H1 IGHMBP2 PLEKHG5 TRPV4
16 congenital contractures 30.6 ASCC1 TRIP4 UBA1
17 charcot-marie-tooth disease 30.5 DNAJB2 DYNC1H1 IGHMBP2 PLEKHG5 TRPV4
18 muscular atrophy 29.6 ASAH1 ASCC1 ATP7A BICD2 DDX20 DNAJB2
19 spinal muscular atrophy, distal, autosomal recessive, 1 12.8
20 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.8
21 spinal muscular atrophy, x-linked 2 12.7
22 scapuloperoneal spinal muscular atrophy 12.7
23 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 12.7
24 spinal muscular atrophy, late-onset, finkel type 12.6
25 spinal muscular atrophy, distal, autosomal recessive, 2 12.6
26 spinal muscular atrophy, distal, x-linked 3 12.6
27 spinal muscular atrophy with progressive myoclonic epilepsy 12.6
28 spinal muscular atrophy, distal, autosomal recessive, 4 12.6
29 spinal muscular atrophy, jokela type 12.5
30 spinal muscular atrophy, distal, autosomal recessive, 5 12.5
31 spinal muscular atrophy, distal, autosomal recessive, 3 12.5
32 spinal muscular atrophy, type i, with congenital bone fractures 12.4
33 spinal muscular atrophy with congenital bone fractures 2 12.4
34 spinal muscular atrophy with respiratory distress type 2 12.3
35 spinal muscular atrophy, segmental 12.3
36 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.3
37 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.2
38 spinal muscular atrophy, ryukyuan type 12.1
39 spinal muscular atrophy, facioscapulohumeral type 12.1
40 adult progressive spinal muscular atrophy aran duchenne type 12.1
41 spinal muscular atrophy with mental retardation 12.1
42 spinal muscular atrophy with microcephaly and mental subnormality 12.1
43 arthrogryposis spinal muscular atrophy 12.1
44 congenital benign spinal muscular atrophy dominant 12.1
45 pontocerebellar hypoplasia, type 1a 11.9
46 amyotrophy, monomelic 11.8
47 distal hereditary motor neuropathies 11.7
48 distal hereditary motor neuropathy, type v 11.7
49 distal hereditary motor neuropathy type 7 11.6
50 encephalopathy, progressive, with amyotrophy and optic atrophy 11.6

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

GenomeRNAi Phenotypes related to Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.05 ASAH1 SMN2
2 Decreased viability GR00381-A-1 10.05 ASAH1 UBA1 GTF2H2
3 Decreased viability GR00402-S-2 10.05 PLEKHG5 SMN1 ASAH1 ASCC1 SMN2 ATP7A
4 Decreased ionizing radiation sensitivity GR00232-A-1 9.7 SMN1 TRIP4 TRPV4 DYNC1H1 UBA1 GEMIN2
5 no effect GR00402-S-1 9.62 PLEKHG5 ASAH1 SMN1 SMN2 ASCC1 ATP7A

MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ATP7A DYNC1H1 IGHMBP2 PLEKHG5 SMN2 TRPV4

Drugs & Therapeutics for Spinal Muscular Atrophy

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

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 3,Phase 2,Phase 1 99-66-1 3121
2
Hydroxyurea Approved Phase 2, Phase 3,Phase 1 127-07-1 3657
3
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
4
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
5 Anticonvulsants Phase 3,Phase 2,Phase 1
6 Antimanic Agents Phase 3,Phase 2,Phase 1
7 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
8 GABA Agents Phase 3,Phase 2,Phase 1
9 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
10 Psychotropic Drugs Phase 3,Phase 2,Phase 1
11 Tranquilizing Agents Phase 3,Phase 2,Phase 1
12 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
13 Excitatory Amino Acid Antagonists Phase 2, Phase 3
14 Excitatory Amino Acids Phase 2, Phase 3
15 Neuroprotective Agents Phase 2, Phase 3
16 Protective Agents Phase 2, Phase 3
17 Potassium Channel Blockers Phase 2, Phase 3
18
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
19
Methyltestosterone Approved Phase 2 58-18-4 6010
20
Testosterone Approved, Investigational Phase 2 58-22-0 6013
21
Testosterone enanthate Approved Phase 2 315-37-7 9416
22
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
23 Piracetam Approved, Investigational Phase 2 7491-74-9
24
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
25 Etiracetam Investigational Phase 2 33996-58-6
26 Bromides Phase 2
27 Cholinergic Agents Phase 2
28 Cholinesterase Inhibitors Phase 2
29 Pyridostigmine Bromide Phase 2 101-26-8
30 Antirheumatic Agents Phase 2
31 Interleukin 1 Receptor Antagonist Protein Phase 2
32 Pharmaceutical Solutions Phase 2,Phase 1
33 4-phenylbutyric acid Phase 1, Phase 2,Phase 2
34 Hormones Phase 2,Phase 1
35 Anabolic Agents Phase 2
36 Androgens Phase 2
37 Antineoplastic Agents, Hormonal Phase 2
38 Fertility Agents Phase 2
39 Hormone Antagonists Phase 2,Phase 1
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
41 Testosterone 17 beta-cypionate Phase 2
42 Nootropic Agents Phase 2
43 Analgesics Phase 2
44 Analgesics, Non-Narcotic Phase 2
45 Anti-Inflammatory Agents Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 2
47 Cyclooxygenase 2 Inhibitors Phase 2
48 Cyclooxygenase Inhibitors Phase 2
49 Peripheral Nervous System Agents Phase 2
50 carnitine Nutraceutical Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 107)
# Name Status NCT ID Phase Drugs
1 Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
2 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 Nusinersen
3 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
4 Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
5 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults With Spinal Muscular Atrophy (SMA) Completed NCT00774423 Phase 2, Phase 3 Riluzole
6 Pre-Symptomatic Study of Intravenous AVXS-101 in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 Recruiting NCT03505099 Phase 3
7 Investigate Safety, Tolerability, PK, PD and Efficacy of RO7034067 in Infants With Type1 Spinal Muscular Atrophy Recruiting NCT02913482 Phase 2, Phase 3 RO7034067
8 A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy (SMA) Participants Recruiting NCT02908685 Phase 2, Phase 3 Placebo;RO7034067
9 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Active, not recruiting NCT03306277 Phase 3
10 A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies. Enrolling by invitation NCT02594124 Phase 3 nusinersen
11 Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Not yet recruiting NCT03461289 Phase 3
12 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy Terminated NCT02193074 Phase 3 nusinersen
13 Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
14 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea
15 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2 Anakinra
16 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
17 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
18 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
19 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I Completed NCT00661453 Phase 1, Phase 2 Valproic Acid and Levocarnitine
20 A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy (SMA) Completed NCT01839656 Phase 2 nusinersen
21 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 Nusinersen
22 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea
23 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
24 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
25 Pilot Study of Growth Hormon to Treat SMA Typ II and III Completed NCT00533221 Phase 2 somatotropin;Placebo
26 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
27 Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
28 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
29 An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA) Recruiting NCT02268552 Phase 1, Phase 2 branaplam
30 A Study of RO7034067 in Adult and Pediatric Participants With Spinal Muscular Atrophy Recruiting NCT03032172 Phase 2 RO7034067
31 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
32 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy Active, not recruiting NCT02644668 Phase 2 CK-2127107 150 mg;Placebo;CK-2127107 450 mg
33 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 Nusinersen
34 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 Nusinersen
35 A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With Spinal Muscular Atrophy (SMA) Active, not recruiting NCT02628743 Phase 2 Olesoxime
36 A Study to Assess FLX-787 in Subjects With Motor Neuron Disease Experiencing Muscle Cramps. Active, not recruiting NCT03196375 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
37 Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
38 Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy Not yet recruiting NCT02876094 Phase 2 celecoxib
39 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
40 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
41 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Completed NCT02122952 Phase 1
42 An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246) Completed NCT02052791 Phase 1 nusinersen
43 An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy Who Previously Participated in ISIS 396443-CS1 (NCT01494701) Completed NCT01780246 Phase 1 nusinersen
44 An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy (SMA) Completed NCT01494701 Phase 1 nusinersen
45 Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy Completed NCT00374075 Phase 1 Valproic Acid
46 A Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RO7034067 (RG7916) Given by Mouth in Healthy Volunteers Completed NCT02633709 Phase 1 Itraconazole;RO7034067
47 Study of Intrathecal Administration of AVXS-101 for Spinal Muscular Atrophy Recruiting NCT03381729 Phase 1
48 A Study of RO6885247 in Adult and Pediatric Patients With Spinal Muscular Atrophy (MOONFISH) Terminated NCT02240355 Phase 1 RO6885247;placebo
49 Mechanisms of Cell Death in Spinal Muscular Atrophy Unknown status NCT01754441
50 Motor Development and Orthoses in Spinal Muscular Atrophy (SMA) Unknown status NCT00961103

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:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy 29 GEMIN2 SMNDC1

Anatomical Context for Spinal Muscular Atrophy

MalaCards organs/tissues related to Spinal Muscular Atrophy:

41
Spinal Cord, Testes, Brain, Bone, Skeletal Muscle, Heart, Tongue

Publications for Spinal Muscular Atrophy

Articles related to Spinal Muscular Atrophy:

(show top 50) (show all 1230)
# Title Authors Year
1
CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. ( 29961886 )
2018
2
Mathematical Disease Progression Modeling in Type 2/3 Spinal Muscular Atrophy. ( 29938801 )
2018
3
Commentary on "Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function". ( 29924071 )
2018
4
Advances in spinal muscular atrophy therapeutics. ( 29434670 )
2018
5
Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity. ( 29887892 )
2018
6
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy. ( 29799103 )
2018
7
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression. ( 29944707 )
2018
8
Therapy for Spinal Muscular Atrophy. ( 29394306 )
2018
9
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
10
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )
2018
11
RNP Assembly Defects in Spinal Muscular Atrophy. ( 29916019 )
2018
12
The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans. ( 29080838 )
2018
13
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. ( 29443664 )
2018
14
Therapy for Spinal Muscular Atrophy. ( 29394473 )
2018
15
Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy-Reply. ( 29800980 )
2018
16
Severe ketoacidosis in a patient with spinal muscular atrophy. ( 29978296 )
2018
17
Limited maximal mouth opening in patients with spinal muscular atrophy complicates endotracheal intubation: An observational study. ( 29975223 )
2018
18
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. ( 29380287 )
2018
19
Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. ( 29446568 )
2018
20
Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting. ( 29925309 )
2018
21
Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes. ( 29916015 )
2018
22
Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. ( 29865093 )
2018
23
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. ( 29967434 )
2018
24
Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy. ( 29440993 )
2018
25
Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy. ( 29977975 )
2018
26
Hirayama Disease (Non-progressive Juvenile Spinal Muscular Atrophy) ( 29763088 )
2018
27
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. ( 29379570 )
2018
28
Autophagy inhibition: a new therapeutic target in spinal muscular atrophy. ( 29863009 )
2018
29
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy. ( 29348544 )
2018
30
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. ( 29924070 )
2018
31
Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy. ( 29649521 )
2018
32
Increase of HCN current in the aberrant excitability of spinal muscular atrophy. ( 29394509 )
2018
33
Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy. ( 29801053 )
2018
34
Impaired Local Translation of I^-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1). ( 29928949 )
2018
35
Advances in therapy for spinal muscular atrophy: promises and challenges. ( 29422644 )
2018
36
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
37
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling. ( 29904179 )
2018
38
Tongue Fasciculations and Electrocardiographic Tremors in Spinal Muscular Atrophy. ( 29429566 )
2018
39
Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy. ( 29391529 )
2018
40
New quantitative method for evaluation of motor functions applicable to spinal muscular atrophy. ( 29395660 )
2018
41
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. ( 29326874 )
2018
42
A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant. ( 29306600 )
2018
43
Therapy for Spinal Muscular Atrophy. ( 29385371 )
2018
44
Cardiac pathology in spinal muscular atrophy: a systematic review. ( 28399889 )
2017
45
How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. ( 28485722 )
2017
46
Another milestone in childhood spinal muscular atrophy. ( 28460890 )
2017
47
Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data. ( 27422779 )
2017
48
Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. ( 28384258 )
2017
49
Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. ( 27279027 )
2017
50
Amphiphilic lipopeptide significantly enhances uptake of charge-neutral splice switching morpholino oligonucleotide in spinal muscular atrophy patient-derived fibroblasts. ( 28864392 )
2017

Variations for Spinal Muscular Atrophy

ClinVar genetic disease variations for Spinal Muscular Atrophy:

6
(show top 50) (show all 181)
# Gene Variation Type Significance SNP ID Assembly Location
1 BICD2 NM_001003800.1(BICD2): c.320C> T (p.Ser107Leu) single nucleotide variant Pathogenic rs398123028 GRCh37 Chromosome 9, 95491439: 95491439
2 BICD2 NM_001003800.1(BICD2): c.320C> T (p.Ser107Leu) single nucleotide variant Pathogenic rs398123028 GRCh38 Chromosome 9, 92729157: 92729157
3 DYNC1H1 NM_001376.4(DYNC1H1): c.791G> T (p.Arg264Leu) single nucleotide variant Pathogenic rs713993043 GRCh38 Chromosome 14, 101980380: 101980380
4 DYNC1H1 NM_001376.4(DYNC1H1): c.791G> T (p.Arg264Leu) single nucleotide variant Pathogenic rs713993043 GRCh37 Chromosome 14, 102446717: 102446717
5 IGHMBP2 NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=) single nucleotide variant Benign/Likely benign rs624147 GRCh37 Chromosome 11, 68704387: 68704387
6 IGHMBP2 NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=) single nucleotide variant Benign/Likely benign rs624147 GRCh38 Chromosome 11, 68936919: 68936919
7 IGHMBP2 NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys) single nucleotide variant Benign rs17612126 GRCh37 Chromosome 11, 68705674: 68705674
8 IGHMBP2 NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys) single nucleotide variant Benign rs17612126 GRCh38 Chromosome 11, 68938206: 68938206
9 IGHMBP2 NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs147674615 GRCh37 Chromosome 11, 68707139: 68707139
10 IGHMBP2 NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs147674615 GRCh38 Chromosome 11, 68939671: 68939671
11 IGHMBP2 NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=) single nucleotide variant Conflicting interpretations of pathogenicity rs139926138 GRCh37 Chromosome 11, 68707010: 68707010
12 IGHMBP2 NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=) single nucleotide variant Conflicting interpretations of pathogenicity rs139926138 GRCh38 Chromosome 11, 68939542: 68939542
13 IGHMBP2 NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=) single nucleotide variant Conflicting interpretations of pathogenicity rs76707931 GRCh37 Chromosome 11, 68682320: 68682320
14 IGHMBP2 NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=) single nucleotide variant Conflicting interpretations of pathogenicity rs76707931 GRCh38 Chromosome 11, 68914852: 68914852
15 IGHMBP2 NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=) single nucleotide variant Conflicting interpretations of pathogenicity rs148157556 GRCh37 Chromosome 11, 68696694: 68696694
16 IGHMBP2 NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=) single nucleotide variant Conflicting interpretations of pathogenicity rs148157556 GRCh38 Chromosome 11, 68929226: 68929226
17 IGHMBP2 NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly) single nucleotide variant Uncertain significance rs148095551 GRCh38 Chromosome 11, 68914878: 68914878
18 IGHMBP2 NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly) single nucleotide variant Uncertain significance rs148095551 GRCh37 Chromosome 11, 68682346: 68682346
19 IGHMBP2 NM_002180.2(IGHMBP2): c.857G> A (p.Arg286Gln) single nucleotide variant Uncertain significance rs200566598 GRCh38 Chromosome 11, 68914968: 68914968
20 IGHMBP2 NM_002180.2(IGHMBP2): c.857G> A (p.Arg286Gln) single nucleotide variant Uncertain significance rs200566598 GRCh37 Chromosome 11, 68682436: 68682436
21 IGHMBP2 NM_002180.2(IGHMBP2): c.1193C> T (p.Ala398Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35193202 GRCh37 Chromosome 11, 68696783: 68696783
22 IGHMBP2 NM_002180.2(IGHMBP2): c.1193C> T (p.Ala398Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35193202 GRCh38 Chromosome 11, 68929315: 68929315
23 IGHMBP2 NM_002180.2(IGHMBP2): c.2872A> G (p.Asn958Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs141873613 GRCh37 Chromosome 11, 68707089: 68707089
24 IGHMBP2 NM_002180.2(IGHMBP2): c.2872A> G (p.Asn958Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs141873613 GRCh38 Chromosome 11, 68939621: 68939621
25 IGHMBP2 NM_002180.2(IGHMBP2): c.548-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs139207271 GRCh37 Chromosome 11, 68678898: 68678898
26 IGHMBP2 NM_002180.2(IGHMBP2): c.548-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs139207271 GRCh38 Chromosome 11, 68911430: 68911430
27 IGHMBP2 NM_002180.2(IGHMBP2): c.381C> G (p.Ser127Arg) single nucleotide variant Uncertain significance rs775782198 GRCh37 Chromosome 11, 68675737: 68675737
28 IGHMBP2 NM_002180.2(IGHMBP2): c.381C> G (p.Ser127Arg) single nucleotide variant Uncertain significance rs775782198 GRCh38 Chromosome 11, 68908269: 68908269
29 IGHMBP2 NM_002180.2(IGHMBP2): c.2360C> T (p.Pro787Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141594765 GRCh37 Chromosome 11, 68704308: 68704308
30 IGHMBP2 NM_002180.2(IGHMBP2): c.2360C> T (p.Pro787Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141594765 GRCh38 Chromosome 11, 68936840: 68936840
31 IGHMBP2 NM_002180.2(IGHMBP2): c.2674A> G (p.Lys892Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs201970407 GRCh37 Chromosome 11, 68705712: 68705712
32 IGHMBP2 NM_002180.2(IGHMBP2): c.2674A> G (p.Lys892Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs201970407 GRCh38 Chromosome 11, 68938244: 68938244
33 IGHMBP2 NM_002180.2(IGHMBP2): c.2837G> A (p.Arg946Gln) single nucleotide variant Uncertain significance rs149824485 GRCh37 Chromosome 11, 68707054: 68707054
34 IGHMBP2 NM_002180.2(IGHMBP2): c.2837G> A (p.Arg946Gln) single nucleotide variant Uncertain significance rs149824485 GRCh38 Chromosome 11, 68939586: 68939586
35 IGHMBP2 NM_002180.2(IGHMBP2): c.-2C> T single nucleotide variant Benign rs4930624 GRCh37 Chromosome 11, 68671419: 68671419
36 IGHMBP2 NM_002180.2(IGHMBP2): c.-2C> T single nucleotide variant Benign rs4930624 GRCh38 Chromosome 11, 68903951: 68903951
37 IGHMBP2 NM_002180.2(IGHMBP2): c.57T> C (p.Leu19=) single nucleotide variant Benign rs1249463 GRCh37 Chromosome 11, 68671477: 68671477
38 IGHMBP2 NM_002180.2(IGHMBP2): c.57T> C (p.Leu19=) single nucleotide variant Benign rs1249463 GRCh38 Chromosome 11, 68904009: 68904009
39 IGHMBP2 NM_002180.2(IGHMBP2): c.151C> G (p.Gln51Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs117061430 GRCh37 Chromosome 11, 68673601: 68673601
40 IGHMBP2 NM_002180.2(IGHMBP2): c.151C> G (p.Gln51Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs117061430 GRCh38 Chromosome 11, 68906133: 68906133
41 IGHMBP2 NM_002180.2(IGHMBP2): c.180C> T (p.Tyr60=) single nucleotide variant Conflicting interpretations of pathogenicity rs34617762 GRCh37 Chromosome 11, 68673630: 68673630
42 IGHMBP2 NM_002180.2(IGHMBP2): c.180C> T (p.Tyr60=) single nucleotide variant Conflicting interpretations of pathogenicity rs34617762 GRCh38 Chromosome 11, 68906162: 68906162
43 IGHMBP2 NM_002180.2(IGHMBP2): c.602T> C (p.Leu201Ser) single nucleotide variant Benign rs560096 GRCh37 Chromosome 11, 68678962: 68678962
44 IGHMBP2 NM_002180.2(IGHMBP2): c.602T> C (p.Leu201Ser) single nucleotide variant Benign rs560096 GRCh38 Chromosome 11, 68911494: 68911494
45 IGHMBP2 NM_002180.2(IGHMBP2): c.823A> G (p.Ile275Val) single nucleotide variant Benign rs10896380 GRCh38 Chromosome 11, 68914934: 68914934
46 IGHMBP2 NM_002180.2(IGHMBP2): c.823A> G (p.Ile275Val) single nucleotide variant Benign rs10896380 GRCh37 Chromosome 11, 68682402: 68682402
47 IGHMBP2 NM_002180.2(IGHMBP2): c.1538-8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs115320302 GRCh37 Chromosome 11, 68701924: 68701924
48 IGHMBP2 NM_002180.2(IGHMBP2): c.1538-8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs115320302 GRCh38 Chromosome 11, 68934456: 68934456
49 IGHMBP2 NM_002180.2(IGHMBP2): c.1554C> T (p.Val518=) single nucleotide variant Benign rs11228413 GRCh37 Chromosome 11, 68701948: 68701948
50 IGHMBP2 NM_002180.2(IGHMBP2): c.1554C> T (p.Val518=) single nucleotide variant Benign rs11228413 GRCh38 Chromosome 11, 68934480: 68934480

Copy number variations for Spinal Muscular Atrophy from CNVD:

7 (show all 22)
# 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 KEGG:

37
# Name Kegg Source Accession
1 RNA transport hsa03013

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 IGHMBP2 PLEKHG5 SMN1 SMN2 TRPV4 ZPR1
2 growth cone GO:0030426 9.65 IGHMBP2 TRPV4 ZPR1
3 perikaryon GO:0043204 9.65 ATP7A NAIP SMN1 SMN2 ZPR1
4 Cajal body GO:0015030 9.62 SMN1 SMN2 SMNDC1 ZPR1
5 SMN-Sm protein complex GO:0034719 9.46 DDX20 GEMIN2 SMN1 SMN2
6 Gemini of coiled bodies GO:0097504 9.35 DDX20 GEMIN2 SMN1 SMN2 ZPR1
7 SMN complex GO:0032797 9.1 DDX20 GEMIN2 IGHMBP2 SMN1 SMN2 ZPR1
8 nucleus GO:0005634 10.28 ASCC1 ATP7A BICD2 DDX20 DNAJB2 GEMIN2
9 cytoplasm GO:0005737 10.27 ATP7A BICD2 DDX20 DNAJB2 DYNC1H1 GEMIN2
10 nucleoplasm GO:0005654 10.16 ASCC1 DDX20 GEMIN2 GTF2H2 SMN1 SMN2

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.73 DDX20 GEMIN2 SMN1 SMN2 SMNDC1 ZPR1
2 RNA splicing GO:0008380 9.63 DDX20 GEMIN2 SMN1 SMN2 SMNDC1 ZPR1
3 spliceosomal complex assembly GO:0000245 9.5 GEMIN2 SMN1 SMN2
4 RNA splicing, via transesterification reactions GO:0000375 9.4 GEMIN2 SMNDC1
5 DNA-templated transcription, termination GO:0006353 9.37 SMN1 SMN2
6 spliceosomal snRNP assembly GO:0000387 9.26 DDX20 GEMIN2 SMN1 SMN2
7 import into nucleus GO:0051170 8.92 DDX20 GEMIN2 SMN1 SMN2

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.7 ASCC1 DYNC1H1 IGHMBP2 SMN1 SMN2 SMNDC1
2 protein binding GO:0005515 9.58 ASCC1 ATP7A BICD2 DDX20 DNAJB2 DYNC1H1
3 nucleotide binding GO:0000166 9.56 DDX20 DYNC1H1 IGHMBP2 TRPV4
4 ATP binding GO:0005524 9.5 ATP7A DDX20 DYNC1H1 IGHMBP2 NAIP TRPV4
5 dynein light intermediate chain binding GO:0051959 9.32 BICD2 DYNC1H1

Sources for Spinal Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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