KWS
MCID: JVN006
MIFTS: 38

Juvenile Spinal Muscular Atrophy (KWS)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 29 6
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 spinal muscular atrophy, type i and survival motor neuron spinal muscular atrophy, 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). The drugs Hydroxyurea and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord.

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 50)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type i 32.8 NAIP SMN1 SMN2
2 survival motor neuron spinal muscular atrophy 32.7 NAIP SMN1 SMN2
3 spinal muscular atrophy, type iii 32.2 NAIP SMN1 SMN2
4 proximal spinal muscular atrophy 31.6 NAIP SMN1 SMN2
5 muscular atrophy 30.5 NAIP SMN1 SMN2 VAPB
6 spinal muscular atrophy, type ii 30.4 NAIP SMN1 SMN2
7 spinal muscular atrophy 29.9 HEXA NAIP PLS3 SMN1 SMN2 VAPB
8 progressive muscular atrophy 29.9 SMN1 SMN2
9 motor neuron disease 29.3 HEXA NAIP SMN1 SMN2 VAPB
10 spinal muscular atrophy, distal, autosomal recessive, 3 11.5
11 amyotrophy, monomelic 11.3
12 neuronopathy, distal hereditary motor, type i 11.3
13 spinal muscular atrophy, distal, x-linked 3 11.3
14 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.2
15 spinal muscular atrophy with lower extremity predominance 11.2
16 muscular dystrophy 10.5
17 atrial standstill 10.3
18 facioscapulohumeral muscular dystrophy 1 10.3
19 muscular dystrophy, becker type 10.3
20 dilated cardiomyopathy 10.3
21 nephrotic syndrome 10.3
22 limb-girdle muscular dystrophy 10.3
23 frasier syndrome 10.2
24 arthrogryposis multiplex congenita, neurogenic type 10.1 SMN1 SMN2
25 culler-jones syndrome 10.1 SMN1 SMN2
26 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 SMN1 SMN2
27 spinal disease 10.1 SMN1 SMN2
28 muscle hypertrophy 10.0
29 anterior horn cell disease 10.0 SMN1 SMN2
30 methane production 10.0
31 retinitis pigmentosa 10.0
32 horns in sheep 10.0
33 hepatitis 10.0
34 hepatitis c 10.0
35 scoliosis 10.0
36 microcephaly 10.0
37 muscle tissue disease 10.0 NAIP SMN1 SMN2
38 neuromuscular disease 10.0 NAIP SMN1 SMN2
39 muscular disease 10.0 NAIP SMN1 SMN2
40 tay-sachs disease 10.0 HEXA SMN1
41 progressive bulbar palsy 9.9 HEXA VAPB
42 exudative vitreoretinopathy 9.9
43 spinal muscular atrophy, type iv 9.9 SMN1 SMN2 VAPB
44 peripheral nervous system disease 9.9 SMN1 SMN2
45 myoclonic epilepsy of unverricht and lundborg 9.9
46 epilepsy 9.9
47 distal hereditary motor neuropathies 9.9
48 charcot-marie-tooth disease 9.8
49 tooth disease 9.8
50 amyotrophic lateral sclerosis 1 9.6 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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
2 Neurotransmitter Agents Phase 2
3 Pyridostigmine Bromide Phase 2 101-26-8
4 Cholinergic Agents Phase 2
5 Bromides Phase 2
6 Anticonvulsants Phase 2
7 Cholinesterase Inhibitors Phase 2
8 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
9 4-phenylbutyric acid Phase 1, Phase 2

Interventional clinical trials:

(show all 14)
# 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 Controlled Trial to Evaluate Amifampridine Phosphate in Spinal Muscular Atrophy Type 3 Patients Recruiting NCT03781479 Phase 2 Amifampridine Phosphate;Placebo Oral Tablet
6 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Types II or III Terminated NCT00439569 Phase 1, Phase 2 sodium phenylbutyrate
7 Motor Development and Orthoses in Spinal Muscular Atrophy (SMA) Unknown status NCT00961103
8 Aerobic Training in Patients With Spinal Muscular Atrophy Type III Completed NCT02003937 Not Applicable
9 International SMA Patient Registry Completed NCT00466349
10 A Pilot Study of Biomarkers for Spinal Muscular Atrophy Completed NCT00756821
11 Oxidative Capacity and Exercise Tolerance in Ambulatory SMA Recruiting NCT02895789
12 Spinraza in Adult Spinal Muscular Atrophy Recruiting NCT03709784
13 Prospective Evaluation of Infants With Spinal Muscular Atrophy: Recruiting NCT02831296
14 Whole Body Vibration Therapy in Children With Spinal Muscular Atrophy Terminated NCT03056144 Not Applicable

Search NIH Clinical Center for Juvenile Spinal Muscular Atrophy

Genetic Tests for Juvenile Spinal Muscular Atrophy

Genetic tests related to Juvenile Spinal Muscular Atrophy:

# Genetic test Affiliating Genes
1 Kugelberg-Welander Disease 29 SMN1 SMN2

Anatomical Context for Juvenile Spinal Muscular Atrophy

MalaCards organs/tissues related to Juvenile Spinal Muscular Atrophy:

41
Brain, Testes, Spinal Cord

Publications for Juvenile Spinal Muscular Atrophy

Articles related to Juvenile Spinal Muscular Atrophy:

(show all 35)
# 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
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). ( 19175839 )
2009
5
An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease). ( 18410269 )
2009
6
Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease). ( 16797181 )
2006
7
Cardiac involvement in Kugelberg-Welander disease: a case report and review. ( 17170627 )
2006
8
Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure. ( 15575246 )
2004
9
Hodgkin's disease complicated by the nephrotic syndrome in a man with Kugelberg-Welander disease. ( 11699426 )
2001
10
Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy. ( 11018816 )
2000
11
Pathological case of the month. Type 3 spinal muscular atrophy (Kugelberg-Welander disease). ( 8322756 )
1993
12
Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe. ( 2255288 )
1990
13
ACTH and steroids in Kugelberg-Welander disease. ( 1965389 )
1990
14
Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy. ( 2801018 )
1989
15
Sensory neuron degeneration in familial Kugelberg-Welander disease. ( 2924211 )
1989
16
Expression of muscle cell surface antigen 5.1H11 in infantile or juvenile spinal muscular atrophy. ( 3736885 )
1986
17
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype. ( 6460466 )
1982
18
Association of cardiomyopathy with Kugelberg-Welander disease. ( 7118527 )
1982
19
Juvenile spinal muscular atrophy--a new hexosaminidase deficiency phenotype. ( 7348998 )
1981
20
Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study. ( 7027754 )
1980
21
Juvenile spinal muscular atrophy (Wohlfart Kugelberg Welander Disease): a case report. ( 977103 )
1976
22
Genetic investigations on chronic forms of infantile and juvenile spinal muscular atrophy. ( 62033 )
1976
23
Kugelberg-Welander Disease. ( 4443596 )
1974
24
Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease). ( 5146579 )
1971
25
Werdnig-Hoffmann-Wohlfart-Kugelberg-Welander disease. Nosological unity and clinical variability in intrafamilial cases. ( 5568110 )
1971
26
Proximal neurogenic muscular atrophy in adolescence and adulthood with X-linked recessive inheritance. Kugelberg-Welander disease and its variant of late onset in one pedigree. ( 5529907 )
1970
27
Neurogenic muscular atrophy simulating facioscapulohumeral muscular dystrophy with particular reference to the heterogeneity of Kugelberg-Welander disease. ( 5345117 )
1969
28
"Myopathic" EMG changes correlated with histopathology in Wohlfart-Kugelberg-Welander disease. ( 4183477 )
1969
29
Progressive ophthalmoplegia in Kugelberg-Welander disease. Report of a case. ( 5766489 )
1969
30
Myopathic electromyographic changes correlated with histopathology in Wohlfart-Kugelberg-Welander disease. ( 5813372 )
1969
31
Juvenile spinal muscular atrophy: a review with case report. ( 5708280 )
1968
32
Infantile and juvenile spinal muscular atrophy. ( 5707429 )
1968
33
Postmortem findings in a case of Wohlfart-Kugelberg-Welander disease. ( 4236559 )
1968
34
Kugelberg-Welander disease with particular reference to sex-influenced manifestations. ( 5675302 )
1968
35
THE WOHLFART-KUGELBERG-WELANDER DISEASE; REVIEW OF THE LITERATURE AND REPORT OF A CASE. ( 14288637 )
1965

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

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 cytoplasm GO:0005737 9.91 CKB NAIP PLS3 SMN1 SMN2 SRA1
2 Cajal body GO:0015030 9.32 SMN1 SMN2
3 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN1 SMN2
4 SMN-Sm protein complex GO:0034719 9.16 SMN1 SMN2
5 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
6 SMN complex GO:0032797 8.62 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 snRNP assembly GO:0000387 9.26 SMN1 SMN2
3 spliceosomal complex assembly GO:0000245 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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