MCID: SPN395
MIFTS: 45

Spinal Muscular Atrophy, Type Ii

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

Aliases & Classifications for Spinal Muscular Atrophy, Type Ii

MalaCards integrated aliases for Spinal Muscular Atrophy, Type Ii:

Name: Spinal Muscular Atrophy, Type Ii 57 29 6
Sma Ii 57 53 75 55
Sma2 57 53 59 75
Muscular Atrophy, Spinal, Infantile Chronic Form 57 12 53
Muscular Atrophy, Spinal, Intermediate Type 57 12 53
Intermediate Spinal Muscular Atrophy 12 59 15
Spinal Muscular Atrophy Type Ii 53 75
Spinal Muscular Atrophy-2 57 13
Spinal Muscular Atrophy Infantile Chronic Form 75
Chronic Infantile Spinal Muscular Atrophy 59
Spinal Muscular Atrophy Intermediate Type 75
Proximal Spinal Muscular Atrophy Type 2 59
Atrophy, Muscular, Spinal, Type Ii 40
Muscular Atrophy, Spinal, Type Ii 73
Chronic Spinal Muscular Atrophy 59
Spinal Muscular Atrophy Type 2 53
Spinal Muscular Atrophy 2 75
Dubowitz Disease 53
Sma Type Ii 59
Sma Type 2 59
Sma-Ii 59

Characteristics:

Orphanet epidemiological data:

59
proximal spinal muscular atrophy type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
presentation between 6-18 months
death between 2 years of age and young adulthood
death secondary to respiratory infection or failure
child often can sit unsupported but never ambulates
deletions in naip gene found in 18% of smaii patients


HPO:

32
spinal muscular atrophy, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 253550
Disease Ontology 12 DOID:0050530
Orphanet 59 ORPHA83418
UMLS via Orphanet 74 C0393538 C2931358
ICD10 via Orphanet 34 G12.1
MeSH 44 D014897

Summaries for Spinal Muscular Atrophy, Type Ii

NIH Rare Diseases : 53 Spinal muscular atrophy type 2 (SMA II) is an inherited condition that affects the muscles. It is characterized primarily by progressive muscle weakness that develops in children between ages 6 and 12 months. Affected children can sit without support; however, they cannot stand or walk unaided. Other signs and symptoms may include a tremor of the fingers, breathing issues, feeding difficulties and skeletal abnormalities (such as scoliosis and hip dislocation). SMA II is caused by mutations in the SMN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the symptoms in each person.

MalaCards based summary : Spinal Muscular Atrophy, Type Ii, also known as sma ii, is related to muscular atrophy and spinal muscular atrophy, and has symptoms including tremor of hands An important gene associated with Spinal Muscular Atrophy, Type Ii is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is RNA transport. The drugs Hormones and Bromides have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, tongue and lung, and related phenotypes are tongue fasciculations and muscle weakness

OMIM : 57 Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetric muscle weakness and atrophy (summary by Wirth, 2000). (253550)

UniProtKB/Swiss-Prot : 75 Spinal muscular atrophy 2: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.

Related Diseases for Spinal Muscular Atrophy, Type Ii

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, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 muscular atrophy 29.2 NAIP SMN1 SMN2
2 spinal muscular atrophy 29.2 NAIP SMN1 SMN2
3 proximal spinal muscular atrophy 28.5 NAIP SMN1 SMN2
4 spinal muscular atrophy, type iii 28.3 NAIP SMN1 SMN2
5 spinal muscular atrophy, type i 28.3 NAIP SMN1 SMN2
6 spinal muscular atrophy, distal, autosomal recessive, 2 11.2
7 spinal muscular atrophy, x-linked 2 11.2
8 myasthenia gravis 9.9
9 myopathy, congenital 9.9
10 muscular dystrophy, duchenne type 9.9
11 diabetes mellitus, ketosis-prone 9.9
12 scoliosis 9.9
13 myopathy 9.9
14 neuronitis 9.9
15 muscular dystrophy 9.9
16 type i 9.9
17 myasthenia gravis congenital 9.9
18 dysphagia 9.9
19 spinal muscular atrophy, type iv 9.8 SMN1 SMN2
20 progressive muscular atrophy 9.8 SMN1 SMN2
21 anterior horn cell disease 9.7 SMN1 SMN2
22 muscular dystrophy, congenital, lmna-related 9.7
23 peripheral nervous system disease 9.6 SMN1 SMN2
24 granulomatous myositis 9.6 NAIP NCAM1
25 central nervous system disease 9.5 SMN1 SMN2
26 nervous system disease 9.2 SMN1 SMN2
27 juvenile spinal muscular atrophy 9.0 NAIP SMN1 SMN2
28 survival motor neuron spinal muscular atrophy 9.0 NAIP SMN1 SMN2
29 spinal disease 9.0 NAIP SMN1 SMN2
30 muscle tissue disease 8.9 NAIP SMN1 SMN2
31 neuromuscular disease 8.9 NAIP SMN1 SMN2
32 motor neuron disease 8.9 NAIP SMN1 SMN2
33 amyotrophic lateral sclerosis 1 8.7 NAIP SMN1 SMN2

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Type Ii:



Diseases related to Spinal Muscular Atrophy, Type Ii

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy
muscle atrophy
emg shows neurogenic abnormalities
tongue fasciculation/fibrillation
degeneration of anterior horn cells
more

Clinical features from OMIM:

253550

Human phenotypes related to Spinal Muscular Atrophy, Type Ii:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 tongue fasciculations 32 HP:0001308
2 muscle weakness 32 HP:0001324
3 recurrent respiratory infections 32 HP:0002205
4 hand tremor 32 HP:0002378
5 degeneration of anterior horn cells 32 HP:0002398
6 emg abnormality 32 HP:0003457
7 spinal muscular atrophy 32 HP:0007269

UMLS symptoms related to Spinal Muscular Atrophy, Type Ii:


tremor of hands

Drugs & Therapeutics for Spinal Muscular Atrophy, Type Ii

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2
2 Bromides Phase 2
3 Cholinergic Agents Phase 2
4 Cholinesterase Inhibitors Phase 2
5 Neurotransmitter Agents Phase 2
6 Pyridostigmine Bromide Phase 2 101-26-8
7 4-phenylbutyric acid Phase 1, Phase 2
8
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Pilot Study of Growth Hormon to Treat SMA Typ II and III Completed NCT00533221 Phase 2 somatotropin;Placebo
2 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
3 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
4 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
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 Clinical Assessment of Spinal Muscular Atrophy Type II and III (SMA Europe) Completed NCT01611610 Not Applicable
8 Spinal Muscular Atrophy and Cardiac Autonomic Function Completed NCT01522079 Not Applicable
9 A Pilot Study of Biomarkers for Spinal Muscular Atrophy Completed NCT00756821
10 Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development Completed NCT01736553
11 Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II Recruiting NCT03395795 Not Applicable
12 European Paediatric AFM Associated With EV-D68 Follow-up Study. Recruiting NCT03499366 Not Applicable

Search NIH Clinical Center for Spinal Muscular Atrophy, Type Ii

Genetic Tests for Spinal Muscular Atrophy, Type Ii

Genetic tests related to Spinal Muscular Atrophy, Type Ii:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Type Ii 29 SMN1

Anatomical Context for Spinal Muscular Atrophy, Type Ii

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type Ii:

41
Spinal Cord, Tongue, Lung

Publications for Spinal Muscular Atrophy, Type Ii

Articles related to Spinal Muscular Atrophy, Type Ii:

(show all 28)
# Title Authors Year
1
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )
2018
2
Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II. ( 26454573 )
2015
3
Preservation of motor evoked potentials under anesthesia in children with spinal muscular atrophy type II undergoing spinal deformity surgery. ( 23912577 )
2013
4
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. ( 24214178 )
2013
5
Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients. ( 24093531 )
2013
6
Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation? ( 23034979 )
2013
7
Double trouble: spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient. ( 21862330 )
2012
8
Drug treatment for spinal muscular atrophy types II and III. ( 22513940 )
2012
9
Anesthetic management of a parturient with spinal muscular atrophy type II. ( 22999982 )
2012
10
Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III. ( 21924737 )
2012
11
Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study. ( 23127961 )
2012
12
Drug treatment for spinal muscular atrophy types II and III. ( 22161400 )
2011
13
Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. ( 21940700 )
2011
14
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III. ( 21762474 )
2011
15
Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. ( 21596705 )
2011
16
Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. ( 21393646 )
2011
17
Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. ( 21057148 )
2010
18
Noninvasive treatment strategy for swallowing problems related to prolonged nonoral feeding in spinal muscular atrophy type II. ( 20087605 )
2010
19
Physical characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients. ( 19969460 )
2010
20
Glossopharyngeal pistoning for lung insufflation in children with spinal muscular atrophy type II. ( 19432834 )
2009
21
Dysphagia in spinal muscular atrophy type II: more than a bulbar problem? ( 19933981 )
2009
22
Drug treatment for spinal muscular atrophy types II and III. ( 19160275 )
2009
23
A comparison of gait in spinal muscular atrophy, type II and Duchenne muscular dystrophy. ( 15886126 )
2005
24
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. ( 14659414 )
2004
25
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. ( 9077498 )
1997
26
"Carryback": effect of viscous liquid controls on the preceding sample analyzed with the SMA II continuous-flow analyzer. ( 4053361 )
1985
27
Enzymic assay of plasma cholesterol: a comparison of analytical variations found using the Greiner GSA II and the Technicon SMA 12/60 and SMA II. ( 501301 )
1979
28
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

Variations for Spinal Muscular Atrophy, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Type Ii:

75
# Symbol AA change Variation ID SNP ID
1 SMN1 p.Ala2Gly VAR_005615 rs75030631
2 SMN1 p.Thr274Ile VAR_005618 rs76871093
3 SMN1 p.Gly279Cys VAR_007990 rs77969175
4 SMN1 p.Asp30Asn VAR_034803 rs104893930
5 SMN1 p.Ala111Gly VAR_034806 rs104893935

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type Ii:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMN1 NM_000344.3(SMN1): c.821C> T (p.Thr274Ile) single nucleotide variant Pathogenic rs76871093 GRCh37 Chromosome 5, 70241990: 70241990
2 SMN1 NM_000344.3(SMN1): c.821C> T (p.Thr274Ile) single nucleotide variant Pathogenic rs76871093 GRCh38 Chromosome 5, 70946163: 70946163
3 SMN1 NM_000344.3(SMN1): c.5C> G (p.Ala2Gly) single nucleotide variant Pathogenic rs75030631 GRCh37 Chromosome 5, 70220935: 70220935
4 SMN1 NM_000344.3(SMN1): c.5C> G (p.Ala2Gly) single nucleotide variant Pathogenic rs75030631 GRCh38 Chromosome 5, 70925108: 70925108
5 SMN1 SMN1, EX8DEL deletion Pathogenic
6 SMN1 NM_000344.3(SMN1): c.305G> A (p.Trp102Ter) single nucleotide variant Pathogenic rs77804083 GRCh37 Chromosome 5, 70238216: 70238216
7 SMN1 NM_000344.3(SMN1): c.305G> A (p.Trp102Ter) single nucleotide variant Pathogenic rs77804083 GRCh38 Chromosome 5, 70942389: 70942389
8 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
9 SMN1 NM_000344.3(SMN1): c.88G> A (p.Asp30Asn) single nucleotide variant Pathogenic rs104893930 GRCh37 Chromosome 5, 70234672: 70234672
10 SMN1 NM_000344.3(SMN1): c.88G> A (p.Asp30Asn) single nucleotide variant Pathogenic rs104893930 GRCh38 Chromosome 5, 70938845: 70938845
11 SMN1 NM_000344.3(SMN1): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs104893935 GRCh37 Chromosome 5, 70238243: 70238243
12 SMN1 NM_000344.3(SMN1): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs104893935 GRCh38 Chromosome 5, 70942416: 70942416
13 SMN1 NC_000005.9: g.70241893_70242003del deletion Pathogenic GRCh37 Chromosome 5, 70241893: 70242003

Expression for Spinal Muscular Atrophy, Type Ii

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Type Ii.

Pathways for Spinal Muscular Atrophy, Type Ii

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

# Super pathways Score Top Affiliating Genes
1 10.86 SMN1 SMN2

GO Terms for Spinal Muscular Atrophy, Type Ii

Cellular components related to Spinal Muscular Atrophy, Type Ii 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 Spinal Muscular Atrophy, Type Ii 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 RNA splicing GO:0008380 9.37 SMN1 SMN2
3 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
4 spliceosomal snRNP assembly GO:0000387 9.16 SMN1 SMN2
5 import into nucleus GO:0051170 8.96 SMN1 SMN2
6 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Sources for Spinal Muscular Atrophy, Type Ii

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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