SMA2
MCID: SPN395
MIFTS: 46

Spinal Muscular Atrophy, Type Ii (SMA2)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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
UMLS 73 C0393538

Summaries for Spinal Muscular Atrophy, Type Ii

NIH Rare Diseases : 53 Spinal muscular atrophy type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months. Babies with SMA2 can sit without support, however, they cannot stand or walk independently. Feeding and breathing problems also develop. SMA2 is caused by changes (pathogenic variants also called mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Diagnosis of SMA2 is suspected by symptoms and confirmed by genetic testing. SMA has been added to the list of recommended newborn screening tests in the United States, so that it can be detected prior to symptoms developing. This occurred because treatments are being developed that are changing the course of the disease. In December 2016, nusinersen (Spinraza) became the first FDA approved treatment for SMA2. Continued treatment with nusinersen is allowing many babies and children with SMA2 to reach and maintain age appropriate developmental milestones, including sitting, crawling, and walking. Breathing problems, nutrition problems, and hospital admissions also decrease in general. However, response to treatment does vary. Some children with SMA2 may not respond to the nusinersen at all or may have medical complications that prevent use of the treatment. Other treatments remain supportive.

MalaCards based summary : Spinal Muscular Atrophy, Type Ii, also known as sma ii, is related to spinal muscular atrophy, type iii 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 Acetaminophen and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, testes and tongue, and related phenotypes are muscle weakness and recurrent respiratory infections

Disease Ontology : 12 A survival motor neuron spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure that typically presents in infancy and drastically reduces length of life, has material basis in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

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 38)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type iii 31.1 NAIP SMN1 SMN2
2 spinal muscular atrophy 30.6 NAIP SMN1 SMN2
3 muscular atrophy 30.6 NAIP SMN1 SMN2
4 proximal spinal muscular atrophy 29.7 NAIP SMN1 SMN2
5 spinal muscular atrophy, type i 29.5 NAIP SMN1 SMN2
6 juvenile spinal muscular atrophy 29.5 NAIP SMN1 SMN2
7 spinal muscular atrophy, distal, autosomal recessive, 2 11.3
8 spinal muscular atrophy, x-linked 2 11.3
9 distal hereditary motor neuropathy, type ii 11.3
10 spinal muscular atrophy with respiratory distress type 2 11.3
11 scoliosis 10.2
12 myasthenia gravis 10.0
13 muscular dystrophy, duchenne type 10.0
14 diabetes mellitus, ketosis-prone 10.0
15 muscular dystrophy 10.0
16 myasthenia gravis congenital 10.0
17 dysphagia 10.0
18 spinal muscular atrophy, type iv 10.0 SMN1 SMN2
19 arthrogryposis multiplex congenita, neurogenic type 10.0 SMN1 SMN2
20 culler-jones syndrome 9.9 SMN1 SMN2
21 amyotrophy, monomelic 9.9
22 limb-girdle muscular dystrophy 9.9
23 spinal muscular atrophy, distal, autosomal recessive, 1 9.9 SMN1 SMN2
24 spinal disease 9.9 SMN1 SMN2
25 progressive muscular atrophy 9.9 SMN1 SMN2
26 anterior horn cell disease 9.9 SMN1 SMN2
27 rett syndrome 9.9
28 granulomatous myositis 9.9 NAIP NCAM1
29 peripheral nervous system disease 9.8 SMN1 SMN2
30 myotonic dystrophy 9.8
31 myotonia atrophica 9.8
32 nervous system disease 9.8 SMN1 SMN2
33 survival motor neuron spinal muscular atrophy 9.7 NAIP SMN1 SMN2
34 muscle tissue disease 9.7 NAIP SMN1 SMN2
35 neuromuscular disease 9.7 NAIP SMN1 SMN2
36 motor neuron disease 9.7 NAIP SMN1 SMN2
37 amyotrophic lateral sclerosis 1 9.6 NAIP SMN1 SMN2
38 muscular disease 9.5 NAIP NCAM1 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:
hand tremor
degeneration of anterior horn cells
muscle atrophy
emg shows neurogenic abnormalities
muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy
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 muscle weakness 32 HP:0001324
2 recurrent respiratory infections 32 HP:0002205
3 emg abnormality 32 HP:0003457
4 tongue fasciculations 32 HP:0001308
5 hand tremor 32 HP:0002378
6 degeneration of anterior horn cells 32 HP:0002398
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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Analgesics Phase 4
3 Antipyretics Phase 4
4 Analgesics, Non-Narcotic Phase 4
5 Peripheral Nervous System Agents Phase 4
6 Hormones Phase 2
7 Neurotransmitter Agents Phase 2
8 Cholinergic Agents Phase 2
9 Pyridostigmine Bromide Phase 2 101-26-8
10 Cholinesterase Inhibitors Phase 2
11 Bromides Phase 2
12 4-phenylbutyric acid Phase 1, Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Paracetamol Study in Patients With Low Muscle Mass Not yet recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
2 Pilot Study of Growth Hormon to Treat SMA Typ II and III Completed NCT00533221 Phase 2 somatotropin;Placebo
3 SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4 Completed NCT02941328 Phase 2 Pyridostigmine;Placebo
4 Safety and Efficacy of Olesoxime (TRO19622) in 3-25 Years SMA Patients. Completed NCT01302600 Phase 2 Olesoxime;Placebo
5 A Study of CK-2127107 in Patients With Spinal Muscular Atrophy Completed NCT02644668 Phase 2 CK-2127107 150 mg;Placebo;CK-2127107 450 mg
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 Clinical Assessment of Spinal Muscular Atrophy Type II and III (SMA Europe) Completed NCT01611610 Not Applicable
9 Spinal Muscular Atrophy and Cardiac Autonomic Function Completed NCT01522079 Not Applicable
10 A Pilot Study of Biomarkers for Spinal Muscular Atrophy Completed NCT00756821
11 Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development Completed NCT01736553
12 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
13 Spinraza in Adult Spinal Muscular Atrophy Recruiting NCT03709784
14 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, Testes, Tongue, Lung

Publications for Spinal Muscular Atrophy, Type Ii

Articles related to Spinal Muscular Atrophy, Type Ii:

(show all 30)
# Title Authors Year
1
Lumbosacral ventral spinal nerve root atrophy identified on MRI in a case of spinal muscular atrophy type II. ( 30340076 )
2019
2
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )
2018
3
Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis. ( 29172006 )
2017
4
The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy type II patients. ( 27807779 )
2017
5
Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II. ( 26454573 )
2015
6
The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type II. ( 24579651 )
2014
7
Preservation of motor evoked potentials under anesthesia in children with spinal muscular atrophy type II undergoing spinal deformity surgery. ( 23912577 )
2013
8
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. ( 24214178 )
2013
9
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
10
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
11
Double trouble: spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient. ( 21862330 )
2012
12
Anesthetic management of a parturient with spinal muscular atrophy type II. ( 22999982 )
2012
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
Outcome measure for SMA II and III patients. ( 18595697 )
2008
23
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. ( 17658255 )
2007
24
A comparison of gait in spinal muscular atrophy, type II and Duchenne muscular dystrophy. ( 15886126 )
2005
25
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
26
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
27
"Carryback": effect of viscous liquid controls on the preceding sample analyzed with the SMA II continuous-flow analyzer. ( 4053361 )
1985
28
Effect of analgesic and antirheumatic drugs on SMA II procedures. ( 6616840 )
1983
29
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
30
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 Z disc GO:0030018 9.4 SMN1 SMN2
2 perikaryon GO:0043204 9.37 SMN1 SMN2
3 Cajal body GO:0015030 9.32 SMN1 SMN2
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.16 SMN1 SMN2
6 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
7 SMN complex GO:0032797 8.62 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 snRNP assembly GO:0000387 9.26 SMN1 SMN2
4 spliceosomal complex assembly GO:0000245 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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