MCID: SPN046
MIFTS: 63

Spinal Muscular Atrophy

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

Aliases & Classifications for Spinal Muscular Atrophy

MalaCards integrated aliases for Spinal Muscular Atrophy:

Name: Spinal Muscular Atrophy 37 12 72 72 23 49 24 50 36 28 40 14 69
Hereditary Motor Neuronopathy 24 69
Progressive Muscular Atrophy 24 69
Sma 49 24
Muscular Atrophy, Spinal 41
Muscular Atrophy Spinal 51
Spinal Amyotrophy 24

Classifications:



External Ids:

Disease Ontology 12 DOID:12377
ICD10 32 G12.9
ICD9CM 34 335.1 335.10
MeSH 41 D009134
NCIt 46 C85075
KEGG 36 H00455

Summaries for Spinal Muscular Atrophy

NINDS : 50 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 sleeplessness, vertigo/dizziness and chronic 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 muscle and nervous system

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 : 24 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 : 49 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 : 40 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

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 180)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type iv 35.0 SMN1 SMN2 VAPB
2 spinal muscular atrophy, type ii 34.9 NAIP SMN1 SMN2
3 spinal muscular atrophy, type iii 34.8 NAIP SMN1 SMN2
4 spinal muscular atrophy, type i 34.7 IGHMBP2 NAIP SMN1 SMN2
5 survival motor neuron spinal muscular atrophy 34.6 NAIP SMN1 SMN2 ZPR1
6 juvenile spinal muscular atrophy 34.6 NAIP SMN1 SMN2 VAPB
7 proximal spinal muscular atrophy 34.5 BICD2 NAIP SMN1 SMN2 SMNDC1
8 progressive muscular atrophy 33.0 SMN1 SMN2 TRPV4
9 motor neuron disease 32.9 AR DYNC1H1 NAIP SMN1 SMN2 VAPB
10 neuromuscular disease 32.6 NAIP SMN1 SMN2 TRPV4
11 spinal disease 32.2 NAIP SMN1 SMN2
12 amyotrophic lateral sclerosis 1 31.6 DNAJB2 NAIP SMN1 SMN2 VAPB
13 muscular atrophy 30.6 AR ASAH1 ATP7A BICD2 DDX20 DNAJB2
14 charcot-marie-tooth disease 30.3 DNAJB2 DYNC1H1 IGHMBP2 PLEKHG5 TRPV4
15 congenital contractures 29.9 TRIP4 UBA1
16 spinal muscular atrophy, distal, autosomal recessive, 1 12.8
17 spinal muscular atrophy, x-linked 2 12.7
18 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant 12.6
19 scapuloperoneal spinal muscular atrophy 12.6
20 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 12.6
21 spinal muscular atrophy, late-onset, finkel type 12.6
22 spinal muscular atrophy, distal, autosomal recessive, 2 12.6
23 spinal muscular atrophy with progressive myoclonic epilepsy 12.6
24 spinal muscular atrophy, distal, x-linked 3 12.6
25 spinal muscular atrophy, distal, autosomal recessive, 4 12.6
26 spinal muscular atrophy, jokela type 12.5
27 spinal muscular atrophy, distal, autosomal recessive, 3 12.5
28 spinal muscular atrophy, distal, autosomal recessive, 5 12.5
29 spinal muscular atrophy, type i, with congenital bone fractures 12.4
30 spinal muscular atrophy with congenital bone fractures 2 12.4
31 spinal muscular atrophy, ryukyuan type 12.3
32 spinal muscular atrophy with respiratory distress type 2 12.3
33 spinal muscular atrophy, segmental 12.3
34 autosomal dominant childhood-onset proximal spinal muscular atrophy 12.3
35 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.2
36 spinal muscular atrophy, facioscapulohumeral type 12.1
37 adult progressive spinal muscular atrophy aran duchenne type 12.1
38 spinal muscular atrophy with mental retardation 12.1
39 spinal muscular atrophy with microcephaly and mental subnormality 12.1
40 arthrogryposis spinal muscular atrophy 12.1
41 congenital benign spinal muscular atrophy dominant 12.1
42 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 12.1
43 prenatal-onset spinal muscular atrophy with congenital bone fractures 12.1
44 amyotrophy, monomelic 12.0
45 pontocerebellar hypoplasia, type 1a 11.9
46 neuronopathy, distal hereditary motor, type viii 11.9
47 distal hereditary motor neuropathy, type v 11.7
48 distal hereditary motor neuropathy type 7 11.6
49 spinal and bulbar muscular atrophy, x-linked 1 11.6
50 neuronopathy, distal hereditary motor, type i 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:


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

MGI Mouse Phenotypes related to Spinal Muscular Atrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.56 IGHMBP2 PLEKHG5 SMN2 TRPV4 VAPB AR
2 nervous system MP:0003631 9.32 AR ASAH1 ATP7A BICD2 DYNC1H1 GEMIN2

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 657181 3911
19
Methyltestosterone Approved Phase 2 58-18-4 6010
20
Testosterone Approved, Investigational Phase 2 58-22-0 6013
21 Piracetam Approved, Investigational Phase 2 7491-74-9
22
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
23 Etiracetam Investigational Phase 2 33996-58-6
24 Bromides Phase 2
25 Cholinergic Agents Phase 2
26 Cholinesterase Inhibitors Phase 2
27 Pyridostigmine Bromide Phase 2 101-26-8
28 Antirheumatic Agents Phase 2
29 Interleukin 1 Receptor Antagonist Protein Phase 2
30 Pharmaceutical Solutions Phase 2,Phase 1
31 4-phenylbutyric acid Phase 1, Phase 2
32 Hormones Phase 2,Phase 1
33 Anabolic Agents Phase 2
34 Androgens Phase 2
35 Antineoplastic Agents, Hormonal Phase 2
36 Fertility Agents Phase 2
37 Hormone Antagonists Phase 2,Phase 1
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
39 Testosterone 17 beta-cypionate Phase 2
40
Testosterone enanthate Phase 2 315-37-7 9416
41 Testosterone undecanoate 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 100)

# 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 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Recruiting NCT03306277 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 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
10 A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Infants With Spinal Muscular Atrophy Terminated NCT02193074 Phase 3 nusinersen
11 Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
12 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea
13 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2 Anakinra
14 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy Completed NCT00481013 Phase 2 Valproic Acid (VPA);Placebo
15 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
16 Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy Completed NCT00227266 Phase 2 Valproic Acid and Levocarnitine;Placebo
17 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
18 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
19 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
20 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea
21 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
22 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
23 Pilot Study of Growth Hormon to Treat SMA Typ II and III Completed NCT00533221 Phase 2 somatotropin;Placebo
24 Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease Completed NCT00004771 Phase 2 leuprolide;testosterone
25 Levetiracetam for Cramps, Spasticity and Neuroprotection in Motor Neuron Disease Completed NCT00324454 Phase 2
26 Effects of Power Mobility on Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
27 An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA) Recruiting NCT02268552 Phase 1, Phase 2 branaplam
28 A Study of RO7034067 in Adult and Pediatric Participants With Spinal Muscular Atrophy Recruiting NCT03032172 Phase 2 RO7034067
29 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy Recruiting NCT02644668 Phase 2 CK-2127107 150 mg;Placebo;CK-2127107 450 mg
30 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
31 A Study to Assess FLX-787 in Subjects With Motor Neuron Disease Experiencing Muscle Cramps. Recruiting NCT03196375 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
32 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
33 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
34 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 Olesoxime
35 Autologous Bone Marrow-Derived Stem Cell Therapy for Motor Neuron Disease Active, not recruiting NCT03067857 Phase 1, Phase 2
36 Effect of Low-Dose Celecoxib on SMN2 in Patients With Spinal Muscular Atrophy Not yet recruiting NCT02876094 Phase 2 celecoxib
37 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
38 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
39 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Completed NCT02122952 Phase 1
40 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
41 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
42 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
43 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
44 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
45 Study of Intrathecal Administration of AVXS-101 for Spinal Muscular Atrophy Recruiting NCT03381729 Phase 1
46 A Study of RO6885247 in Adult and Pediatric Patients With Spinal Muscular Atrophy (MOONFISH) Terminated NCT02240355 Phase 1 RO6885247;placebo
47 Mechanisms of Cell Death in Spinal Muscular Atrophy Unknown status NCT01754441
48 Motor Development and Orthoses in Spinal Muscular Atrophy (SMA) Unknown status NCT00961103
49 Quantitative Analysis of SMN1 and SMN2 Gene Based on DHPLC System Unknown status NCT00155168
50 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. Unknown status NCT00154960

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 28 GEMIN2 SMNDC1

Anatomical Context for Spinal Muscular Atrophy

MalaCards organs/tissues related to Spinal Muscular Atrophy:

38
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 1159)
# Title Authors Year
1
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. ( 29443664 )
2018
2
Therapy for Spinal Muscular Atrophy. ( 29385371 )
2018
3
Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy. ( 29348544 )
2018
4
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
5
Therapy for Spinal Muscular Atrophy. ( 29394306 )
2018
6
Increase of HCN current in the aberrant excitability of spinal muscular atrophy. ( 29394509 )
2018
7
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )
2018
8
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
9
Advances in spinal muscular atrophy therapeutics. ( 29434670 )
2018
10
Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia. ( 29379570 )
2018
11
Tongue Fasciculations and Electrocardiographic Tremors in Spinal Muscular Atrophy. ( 29429566 )
2018
12
New quantitative method for evaluation of motor functions applicable to spinal muscular atrophy. ( 29395660 )
2018
13
Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy. ( 29440993 )
2018
14
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
15
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy. ( 29380287 )
2018
16
Small-molecule flunarizine increases SMN protein in nuclear Cajal bodies and motor function in a mouse model of spinal muscular atrophy. ( 29391529 )
2018
17
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease. ( 29326874 )
2018
18
Therapy for Spinal Muscular Atrophy. ( 29394473 )
2018
19
Advances in therapy for spinal muscular atrophy: promises and challenges. ( 29422644 )
2018
20
Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings. ( 27279027 )
2017
21
Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. ( 28821278 )
2017
22
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. ( 27939059 )
2017
23
Newborn screening for spinal muscular atrophy: The views of affected families and adults. ( 28374951 )
2017
24
Spinal muscular atrophy: A changing phenotype beyond the clinical trials. ( 28757001 )
2017
25
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. ( 28193117 )
2017
26
Therapeutic strategies for spinal muscular atrophy: SMN and beyond. ( 28768735 )
2017
27
Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy. ( 27754957 )
2017
28
Amphiphilic lipopeptide significantly enhances uptake of charge-neutral splice switching morpholino oligonucleotide in spinal muscular atrophy patient-derived fibroblasts. ( 28864392 )
2017
29
Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III. ( 28937047 )
2017
30
Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice. ( 28379354 )
2017
31
Longitudinal characterization of biomarkers for spinal muscular atrophy. ( 28491897 )
2017
32
Raise the Roof: Boosting the Efficacy of a Spinal Muscular Atrophy Therapy. ( 28056344 )
2017
33
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. ( 28132687 )
2017
34
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. ( 28251733 )
2017
35
Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. ( 28522225 )
2017
36
ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy. ( 28400976 )
2017
37
Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus. ( 28823932 )
2017
38
Nusinersen: antisense oligonucleotide to increase SMN protein production in spinal muscular atrophy. ( 28799578 )
2017
39
An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA). ( 28468263 )
2017
40
Clinical Characteristics of Spinal Muscular Atrophy in Korea Confirmed by Genetic Analysis. ( 28792153 )
2017
41
The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy. ( 28017471 )
2017
42
ERK and ROCK functionally interact in a signaling network that is compensationally upregulated in Spinal Muscular Atrophy. ( 28916199 )
2017
43
Dawn of a new therapeutic era for spinal muscular atrophy. ( 27939062 )
2017
44
Outcomes of Primary Posterior Spinal Fusion for Scoliosis in Spinal Muscular Atrophy: Clinical, Radiographic, and Pulmonary Outcomes and Complications. ( 28777284 )
2017
45
Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis: a genomics perspective. ( 28054357 )
2017
46
Nusinersen: The First Option Beyond Supportive Care for Spinal Muscular Atrophy. ( 28755059 )
2017
47
A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. ( 28460014 )
2017
48
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
49
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
50
Nusinersen for the treatment of spinal muscular atrophy. ( 28884620 )
2017

Variations for Spinal Muscular Atrophy

ClinVar genetic disease variations for Spinal Muscular Atrophy:

6
# 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 DYNC1H1 NM_001376.4(DYNC1H1): c.791G> T (p.Arg264Leu) single nucleotide variant Pathogenic rs713993043 GRCh38 Chromosome 14, 101980380: 101980380
3 SMN1 NC_000005.10: g.(?_70951921)_(70952011_?)del deletion Pathogenic GRCh38 Chromosome 5, 70951921: 70952011

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:

36
# 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.88 IGHMBP2 PLEKHG5 SMN1 SMN2 TRPV4 ZPR1
2 neuron projection GO:0043005 9.76 ATP7A NAIP SMN1 SMN2
3 growth cone GO:0030426 9.67 IGHMBP2 TRPV4 ZPR1
4 Cajal body GO:0015030 9.67 SMN1 SMN2 SMNDC1 ZPR1
5 perikaryon GO:0043204 9.65 ATP7A NAIP SMN1 SMN2 ZPR1
6 SMN-Sm protein complex GO:0034719 9.46 DDX20 GEMIN2 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 9.35 DDX20 GEMIN2 SMN1 SMN2 ZPR1
8 SMN complex GO:0032797 9.1 DDX20 GEMIN2 IGHMBP2 SMN1 SMN2 ZPR1
9 nucleus GO:0005634 10.28 AR ATP7A BICD2 DDX20 DNAJB2 GEMIN2
10 cytosol GO:0005829 10.26 AR ATP7A BICD2 DDX20 DNAJB2 DYNC1H1
11 cytoplasm GO:0005737 10.25 AR ATP7A BICD2 DDX20 DNAJB2 DYNC1H1

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 nuclear import 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 protein binding GO:0005515 9.55 AR ATP7A BICD2 DDX20 DNAJB2 DYNC1H1
2 ATP binding GO:0005524 9.5 ATP7A DDX20 DYNC1H1 IGHMBP2 NAIP TRPV4

Sources for Spinal Muscular Atrophy

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