MCID: JVN006
MIFTS: 38

Juvenile Spinal Muscular Atrophy

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

Aliases & Classifications for Juvenile Spinal Muscular Atrophy

MalaCards integrated aliases for Juvenile Spinal Muscular Atrophy:

Name: Juvenile Spinal Muscular Atrophy 12 15 73
Kugelberg-Welander Disease 12 54
Sma3 12 53
Spinal Muscular Atrophy, Mild Childhood and Adolescent Form 53
Spinal Muscular Atrophy of Childhood 12
Spinal Muscular Atrophy, Familial 12
Type Iii Spinal Muscular Atrophy 12
Spinal Muscular Atrophy Type 3 53
Kugelberg-Welander Syndrome 53
Muscular Atrophy, Juvenile 53
Sma 3 53
Kws 53

Classifications:



External Ids:

Disease Ontology 12 DOID:12376
ICD9CM 35 335.11
MeSH 44 D014897
SNOMED-CT 68 54280009

Summaries for Juvenile Spinal Muscular Atrophy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 83419Disease definitionProximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.EpidemiologyPrevalence is estimated at around 1/375,000.Clinical descriptionThe disease manifests after 12 months of age (usually between childhood and adolescence), after ambulation has been acquired. Two subtypes (SMA3a and SMA3b) have been distinguished by some authors: SMA3a defines patients with onset before the age of 3 years, whereas SMA3b defines patients with onset after 3 years. Difficulties walking, running, and going up and down stairs are common. The muscle weakness predominantly affects the legs and hip muscles and then progresses to the shoulders and arms. Legs are always more severely affected than arms. Weak finger trembling and scoliosis are frequent and the patellar reflex is absent.EtiologyAs for other forms of SMA, SMA3 is primarily caused by deletions in the SMN1 gene (5q12.2-q13.3) encoding the SMN (survival motor neuron) protein. Although there is some variation, disease severity in SMA is inversely correlated with the number of copies of the second SMN gene (SMN2; 5q13.2), with patients with MSA3 having three (SMA3a) or four (SMA3b) SMN2copies. Deletions of the NAIP (5q13.1) gene, which may play a role in modifying disease severity, have also been identified in SMA3 patients but are less frequent than in individuals with SMA1 and 2.Diagnostic methodsDiagnosis is based on clinical history and examination but is confirmed by genetic testing. Electromyography and muscle biopsy may be necessary.Differential diagnosisDifferential diagnoses include amyotrophic lateral sclerosis, congenital muscular dystrophies, congenital myopathies, primary lateral sclerosis, myasthenia gravis, and carbohydrate metabolism disorders (see these terms).Antenatal diagnosisAntenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villus samples.Genetic counselingTransmission is autosomal recessive but around 2% of cases are caused by de novo mutations. Genetic counseling should be offered to patients and their families.Management and treatmentClinical trials to identify specific drug treatments for SMA are ongoing, and preliminary studies have indicated that valproic acid (as a histone deacetylase inhibitor) may improve quantitative muscle strength and subjective motor function in SMA3 patients. However, at present, management is symptomatic, involving a multidisciplinary approach aiming to improve quality of life. Physiotherapy and occupational therapies are recommended.PrognosisA wheelchair may be required during childhood for some patients (more commonly those with SMA3a), whilst others retain the ability to walk into adulthood (more commonly those with SMA3b). SMA3 progresses slowly and life expectancy is usually normal. However, deformities of the vertebral column are frequent and complications may lead to respiratory restriction.Visit the Orphanet disease page for more resources.

MalaCards based summary : Juvenile Spinal Muscular Atrophy, also known as kugelberg-welander disease, is related to survival motor neuron spinal muscular atrophy and spinal muscular atrophy, type iii, and has symptoms including muscle cramp and tremor of hands. An important gene associated with Juvenile Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is RNA transport. The drugs Hydroxyurea and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include testes, spinal cord and brain.

Related Diseases for Juvenile 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 Juvenile Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 survival motor neuron spinal muscular atrophy 32.0 NAIP SMN1 SMN2
2 spinal muscular atrophy, type iii 31.9 NAIP SMN1 SMN2
3 muscular atrophy 29.2 NAIP SMN1 SMN2 VAPB
4 spinal muscular atrophy 26.7 HEXA NAIP PLS3 SMN1 SMN2 VAPB
5 spinal muscular atrophy, distal, autosomal recessive, 3 11.3
6 amyotrophy, monomelic 11.2
7 neuronopathy, distal hereditary motor, type i 11.2
8 progressive muscular atrophy 10.1 SMN1 SMN2
9 anterior horn cell disease 10.0 SMN1 SMN2
10 peripheral nervous system disease 9.9 SMN1 SMN2
11 scoliosis 9.9
12 central nervous system disease 9.8 SMN1 SMN2
13 charcot-marie-tooth disease 9.7
14 spinal muscular atrophy, type iv 9.7 SMN1 SMN2 VAPB
15 spinal muscular atrophy, type ii 9.6 NAIP SMN1 SMN2
16 spinal disease 9.6 NAIP SMN1 SMN2
17 proximal spinal muscular atrophy 9.6 NAIP SMN1 SMN2
18 spinal muscular atrophy, type i 9.6 NAIP SMN1 SMN2
19 tay-sachs disease 9.6 HEXA SMN1
20 muscle tissue disease 9.6 NAIP SMN1 SMN2
21 nervous system disease 9.6 SMN1 SMN2
22 progressive bulbar palsy 9.6 HEXA VAPB
23 neuromuscular disease 9.5 NAIP SMN1 SMN2
24 motor neuron disease 8.1 HEXA NAIP SMN1 SMN2 VAPB
25 amyotrophic lateral sclerosis 1 8.1 HEXA NAIP SMN1 SMN2 VAPB

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



Diseases related to Juvenile Spinal Muscular Atrophy

Symptoms & Phenotypes for Juvenile Spinal Muscular Atrophy

UMLS symptoms related to Juvenile Spinal Muscular Atrophy:


muscle cramp, tremor of hands

Drugs & Therapeutics for Juvenile Spinal Muscular Atrophy

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
2 Anticonvulsants Phase 2
3 Bromides Phase 2
4 Cholinergic Agents Phase 2
5 Cholinesterase Inhibitors Phase 2
6 Neurotransmitter Agents Phase 2
7 Pyridostigmine Bromide Phase 2 101-26-8
8 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
9 4-phenylbutyric acid Phase 1, Phase 2
10
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Pyridostigmine on Patients With Spinal Muscular Atrophy Type 3 Unknown status NCT02227823 Phase 2 Pyridostigmine Bromide
2 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients Unknown status NCT00568802 Phase 1, Phase 2 Hydroxyurea
3 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
4 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
5 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
6 Motor Development and Orthoses in Spinal Muscular Atrophy (SMA) Unknown status NCT00961103
7 Aerobic Training in Patients With Spinal Muscular Atrophy Type III Completed NCT02003937 Not Applicable
8 A Pilot Study of Biomarkers for Spinal Muscular Atrophy Completed NCT00756821
9 Whole Body Vibration Therapy in Children With Spinal Muscular Atrophy Recruiting NCT03056144 Not Applicable
10 Oxidative Capacity and Exercise Tolerance in Ambulatory SMA Recruiting NCT02895789
11 Prospective Evaluation of Infants With Spinal Muscular Atrophy: Recruiting NCT02831296
12 International SMA Patient Registry Active, not recruiting NCT00466349

Search NIH Clinical Center for Juvenile Spinal Muscular Atrophy

Genetic Tests for Juvenile Spinal Muscular Atrophy

Anatomical Context for Juvenile Spinal Muscular Atrophy

MalaCards organs/tissues related to Juvenile Spinal Muscular Atrophy:

41
Testes, Spinal Cord, Brain

Publications for Juvenile Spinal Muscular Atrophy

Articles related to Juvenile Spinal Muscular Atrophy:

(show all 13)
# Title Authors Year
1
Hirayama Disease (Non-progressive Juvenile Spinal Muscular Atrophy) ( 29763088 )
2018
2
A study of dynamic F-waves in juvenile spinal muscular atrophy of the distal upper extremity (Hirayama disease). ( 27423607 )
2016
3
Minimum 5-year radiographic results of long scoliosis fusion in juvenile spinal muscular atrophy patients: major curve progression after instrumented fusion. ( 21654453 )
2011
4
Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy. ( 11018816 )
2000
5
Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy. ( 2801018 )
1989
6
Expression of muscle cell surface antigen 5.1H11 in infantile or juvenile spinal muscular atrophy. ( 3736885 )
1986
7
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype. ( 6460466 )
1982
8
Juvenile spinal muscular atrophy--a new hexosaminidase deficiency phenotype. ( 7348998 )
1981
9
Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study. ( 7027754 )
1980
10
Juvenile spinal muscular atrophy (Wohlfart Kugelberg Welander Disease): a case report. ( 977103 )
1976
11
Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy. ( 62033 )
1976
12
Juvenile spinal muscular atrophy: a review with case report. ( 5708280 )
1968
13
Infantile and juvenile spinal muscular atrophy. ( 5707429 )
1968

Variations for Juvenile Spinal Muscular Atrophy

Expression for Juvenile Spinal Muscular Atrophy

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

Pathways for Juvenile Spinal Muscular Atrophy

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

# Super pathways Score Top Affiliating Genes
1 10.86 SMN1 SMN2

GO Terms for Juvenile Spinal Muscular Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.5 NAIP SMN1 SMN2
2 Z disc GO:0030018 9.43 SMN1 SMN2
3 cytoplasmic ribonucleoprotein granule GO:0036464 9.4 SMN1 SMN2
4 Cajal body GO:0015030 9.37 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.26 SMN1 SMN2
6 SMN complex GO:0032797 9.16 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
8 perikaryon GO:0043204 8.8 NAIP SMN1 SMN2

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.5 NAIP SMN1 SMN2
2 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
3 spliceosomal snRNP assembly GO:0000387 9.16 SMN1 SMN2
4 import into nucleus GO:0051170 8.96 SMN1 SMN2
5 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Sources for Juvenile 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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