MCID: CHL155
MIFTS: 29

Childhood Spinal Muscular Atrophy

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Childhood Spinal Muscular Atrophy

MalaCards integrated aliases for Childhood Spinal Muscular Atrophy:

Name: Childhood Spinal Muscular Atrophy 12
Survival Motor Neuron Spinal Muscular Atrophy 12 15
Spinal Muscular Atrophies of Childhood 12 43

Classifications:



External Ids:

Disease Ontology 12 DOID:0060160
MeSH 43 D014897
NCIt 49 C85076
UMLS 71 C0700595

Summaries for Childhood Spinal Muscular Atrophy

Disease Ontology : 12 A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood.

MalaCards based summary : Childhood Spinal Muscular Atrophy, also known as survival motor neuron spinal muscular atrophy, is related to spinal muscular atrophy, type ii and spinal muscular atrophy, type iii. An important gene associated with Childhood Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric). The drugs Valproic acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include spinal cord.

Related Diseases for Childhood Spinal Muscular Atrophy

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type ii 32.2 UNC119 SMN2 SMN1 PLS3 NAIP IGHMBP2
2 spinal muscular atrophy, type iii 31.0 UNC119 SMN2 SMN1 SERF1B SERF1A PLS3
3 neuromuscular disease 30.7 SMN2 SMN1 NAIP IGHMBP2
4 proximal spinal muscular atrophy 30.6 SMN2 SMN1 NAIP BICD2
5 muscular atrophy 30.5 SMN2 SMN1 SERF1A PLS3 NAIP IGHMBP2
6 progressive muscular atrophy 30.4 SMN2 SMN1
7 spinal muscular atrophy, type i 30.4 UNC119 ST8SIA4 SMN2 SMN1 SFI1 SERF1B
8 motor neuron disease 30.3 SMN2 SMN1 NAIP BICD2
9 spinal muscular atrophy 30.3 SMN2 SMN1 SERF1B SERF1A PLS3 NAIP
10 spinal muscular atrophy type 0 11.3
11 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.5 SMN2 SMN1
12 amelogenesis imperfecta, type ia 10.4 SMN2 SMN1
13 autosomal recessive distal hereditary motor neuronopathy 10.4 SMN2 SMN1 IGHMBP2
14 anterior horn cell disease 10.4 SMN2 SMN1 IGHMBP2
15 spinal muscular atrophy, distal, autosomal recessive, 1 10.4 SMN2 SMN1 IGHMBP2
16 neuronopathy, distal hereditary motor, type va 10.4 SMN2 SMN1 IGHMBP2
17 dubowitz syndrome 10.4 SMN2 SMN1
18 spinal muscular atrophy with lower extremity predominance 10.4 IGHMBP2 BICD2
19 spinal muscular atrophy with progressive myoclonic epilepsy 10.4 SMN2 SMN1
20 form agnosia 10.4 SERF1B SERF1A
21 myasthenic syndrome, congenital, 18 10.3 SERF1B SERF1A
22 scapuloperoneal spinal muscular atrophy 10.3 IGHMBP2 BICD2
23 spinal disease 10.2 SMN2 SMN1 NAIP
24 spinal muscular atrophy, type iv 10.2 SMN2 SMN1 NAIP LCOR AACS
25 charcot-marie-tooth disease, axonal, type 2e 10.2 SMN2 SMN1 IGHMBP2 BICD2
26 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 10.2 ST8SIA4 SALL1
27 spherocytosis, type 1 10.1 ST8SIA4 SFI1 SALL1 SACM1L CNOT1
28 alkuraya-kucinskas syndrome 10.1
29 tremor 10.1
30 congenital amyoplasia 10.1
31 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 10.0
32 spinal muscular atrophy with microcephaly and mental subnormality 10.0
33 microcephaly 10.0
34 amyotrophic lateral sclerosis 1 10.0
35 arthrogryposis, distal, type 1a 10.0
36 friedreich ataxia 10.0
37 ataxia and polyneuropathy, adult-onset 10.0
38 autosomal recessive disease 10.0
39 scoliosis 10.0
40 lateral sclerosis 10.0
41 myopathy 10.0
42 peripheral nervous system disease 10.0
43 neuropathy 10.0
44 hypotonia 10.0
45 sturge-weber syndrome 9.9 SERF1B SERF1A

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



Diseases related to Childhood Spinal Muscular Atrophy

Symptoms & Phenotypes for Childhood Spinal Muscular Atrophy

Drugs & Therapeutics for Childhood Spinal Muscular Atrophy

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
2 Anticonvulsants Phase 3
3 Neurotransmitter Agents Phase 3
4 Psychotropic Drugs Phase 3
5
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
6 Cholinergic Agents Phase 2
7 Cholinesterase Inhibitors Phase 2
8 Pyridostigmine Bromide Phase 2 101-26-8
9 Bromides Phase 2
10 carnitine Phase 1, Phase 2
11 Immunoglobulins Phase 2
12 Antibodies Phase 2
13 Antibodies, Monoclonal Phase 2
14 Immunoglobulins, Intravenous Phase 2
15 Immunoglobulin G Phase 2
16 4-phenylbutyric acid Phase 1, Phase 2

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Enrolling by invitation NCT04042025 Phase 4
2 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
3 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Recruiting NCT03837184 Phase 3
4 Safety and Efficacy Study of Anti-cholinesterase Therapy on the Motor Functions in Patients With Spinal Muscular Atrophy Type 3. Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
5 The Effectiveness of Allogeneic Adipose Derived Mesenchymal Stem Cells (ADMSCs) in the Phenotypic Changes of Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
6 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
7 Phase II, Multicenter, Randomized, Adaptive, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Year Old Spinal Muscular Atrophy (SMA) Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
8 Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I) Completed NCT00661453 Phase 1, Phase 2 Valproic Acid and Levocarnitine
9 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Completed NCT00568802 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
10 A Phase II, Mono-center, Placebo-controlled, Double-blind, Crossover Trial to Investigate Effect and Efficacy of Pyridostigmine in Dutch Patients With Spinal Muscular Atrophy Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
11 Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK-015 in Patients With Later-Onset Spinal Muscular Atrophy (TOPAZ) Active, not recruiting NCT03921528 Phase 2
12 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type II/III Spinal Muscular Atrophy Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
13 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type I Spinal Muscular Atrophy Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
14 Phase I Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS-101 Completed NCT02122952 Phase 1
15 Clinical Assessment of Spinal Muscular Atrophy Type II and III Completed NCT01611610
16 Evaluation of Palliative and Supportive Care for Spinal Muscular Atrophy (SMA) Type 1 Patients Completed NCT01862042
17 A Prospective, Multi-center, Observational Study of the Safety, Tolerability and Effectiveness of SPINRAZA® (Nusinersen) in Adult Patients With Spinal Muscular Atrophy Recruiting NCT03709784
18 Controlled Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II Recruiting NCT03395795
19 A Long Term Follow up Safety Study of Patients in the AVXS-101-CL-101 Gene Replacement Therapy Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS 101 Active, not recruiting NCT03421977
20 Physical Exercise and Neuromuscular Diseases: Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy Active, not recruiting NCT02061189

Search NIH Clinical Center for Childhood Spinal Muscular Atrophy

Cochrane evidence based reviews: spinal muscular atrophies of childhood

Genetic Tests for Childhood Spinal Muscular Atrophy

Anatomical Context for Childhood Spinal Muscular Atrophy

MalaCards organs/tissues related to Childhood Spinal Muscular Atrophy:

40
Spinal Cord

Publications for Childhood Spinal Muscular Atrophy

Articles related to Childhood Spinal Muscular Atrophy:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Nusinersen helps restore walking ability in childhood spinal muscular atrophy. 61
31290219 2019
2
Another milestone in childhood spinal muscular atrophy. 61
28460890 2017
3
Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. 61
26865511 2016
4
A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy. 61
25074464 2015
5
The Spectrum of Motor Neuron Diseases: From Childhood Spinal Muscular Atrophy to Adult Amyotrophic Lateral Sclerosis. 61
25794940 2015
6
Synaptic defects in type I spinal muscular atrophy in human development. 61
22847626 2013
7
Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy. 61
23107878 2012
8
Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs). 61
22921322 2012
9
Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations. 61
22884440 2012
10
Childhood spinal muscular atrophy: controversies and challenges. 61
22516079 2012
11
SMN, Gemin2 and Gemin3 associate with beta-actin mRNA in the cytoplasm of neuronal cells in vitro. 61
20620147 2010
12
Analysis of SMN-neurite granules: Core Cajal body components are absent from SMN-cytoplasmic complexes. 61
20515655 2010
13
SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules. 61
20188701 2010
14
Is RNA manipulation a viable therapy for spinal muscular atrophy? 61
19758605 2009
15
Childhood spinal muscular atrophy and stem cell research: Is cellular replacement therapy the answer? (Review). 61
21475781 2009
16
Childhood spinal muscular atrophy induces alterations in contractile and regulatory protein isoform expressions. 61
18363640 2008
17
Valproate and spinal muscular atrophy (Review). 61
21479391 2008
18
Molecular analysis of SMN1 and NAIP genes in Egyptian patients with spinal muscular atrophy. 61
17682539 2007
19
Absence of mutations in the survival motor neuron cDNA from labrador retrievers with an inherited myopathy. 61
16127134 2005
20
Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells. 61
15361068 2005
21
Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development. 61
12075005 2002
22
Phenotype and genotype correlation in childhood spinal muscular atrophy. 61
12001651 2001
23
The role of SMN in spinal muscular atrophy. 61
10795885 2000
24
Abnormal fatty acid metabolism in childhood spinal muscular atrophy. 61
10072048 1999
25
Molecular basis of genetic heterogeneity: role of the clinical neurologist. 61
9535238 1998
26
The role of the SMN gene in proximal spinal muscular atrophy. 61
9735373 1998
27
Spinal muscular atrophy. 61
9330883 1997
28
Erroneous diagnosis corrected after 28 years. Not spinal muscular atrophy with ophthalmoplegia but minicore myopathy. 61
8912497 1996
29
[Survival motor neuron and neuronal apoptosis inhibitory protein gene deletion analysis of childhood spinal muscular atrophy]. 61
8831251 1996
30
The neurobiology of childhood spinal muscular atrophy. 61
9173917 1996
31
From enigmatic to problematic: the new molecular genetics of childhood spinal muscular atrophy. 61
8614490 1996
32
Nerve conduction velocity in severe childhood spinal muscular atrophy (SMA type I). 61
9153014 1996
33
Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele. 61
7760328 1995
34
Chronic childhood spinal muscular atrophy in Germany (West-Thüringen)--an epidemiological study. 61
8125489 1994
35
A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases. 61
8048695 1994
36
[Changes of some proteins expression of the spinal cord and muscles in infantile spinal muscular atrophy]. 61
7863164 1994
37
The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis. 61
8245065 1993
38
Progress toward cloning of the gene responsible for childhood spinal muscular atrophy. 61
8272599 1993
39
Molecular genetics and clinical aspects of inherited disorders of nerve and muscle. 61
1392132 1992
40
Role of electromyography in the diagnosis of motor neuron disorders. 61
1340912 1992
41
On chaos in classification of childhood spinal muscular atrophy. 61
1300192 1992
42
Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw. 61
2370051 1990
43
Electrocardiographic abnormalities in childhood spinal muscular atrophy. 61
2767807 1989
44
Cell adhesion molecule N-CAM is expressed by denervated myofibres in Werdnig-Hoffman and Kugelberg-Welander type spinal muscular atrophies. 61
3295121 1987
45
A case of chronic childhood spinal muscular atrophy. Or, how to succeed in life despite total paralysis. 61
3822968 1987
46
Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved? 61
512685 1979
47
Use of the ECG in the diagnosis of childhood spinal muscular atrophy. 61
444102 1979
48
Bedside evaluation of large motor units in childhood spinal muscular atrophy. 61
571988 1979
49
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. 61
745211 1978
50
Segregation analysis of chronic childhood spinal muscular atrophy. 61
745213 1978

Variations for Childhood Spinal Muscular Atrophy

Expression for Childhood Spinal Muscular Atrophy

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

Pathways for Childhood Spinal Muscular Atrophy

GO Terms for Childhood Spinal Muscular Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.1 UNC119 SMN2 SMN1 SFI1 SERF1B SERF1A
2 SMN-Sm protein complex GO:0034719 9.33 SMN2 SMN1 GEMIN2
3 Gemini of coiled bodies GO:0097504 9.13 SMN2 SMN1 GEMIN2
4 SMN complex GO:0032797 8.8 SMN2 SMN1 GEMIN2

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

# Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.43 SMN2 SMN1 GEMIN2
2 amyloid fibril formation GO:1990000 9.37 SERF1B SERF1A
3 spliceosomal complex assembly GO:0000245 9.33 SMN2 SMN1 GEMIN2
4 DNA-templated transcription, termination GO:0006353 9.32 SMN2 SMN1
5 nervous system development GO:0007399 9.17 UNC119 ST8SIA4 SMN2 SMN1 SERF1B SERF1A
6 import into nucleus GO:0051170 9.13 SMN2 SMN1 GEMIN2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 UNC119 SMN2 SMN1 SFI1 SERF1B SERF1A

Sources for Childhood Spinal Muscular Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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