SMA4
MCID: SPN398
MIFTS: 40

Spinal Muscular Atrophy, Type Iv (SMA4)

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

Aliases & Classifications for Spinal Muscular Atrophy, Type Iv

MalaCards integrated aliases for Spinal Muscular Atrophy, Type Iv:

Name: Spinal Muscular Atrophy, Type Iv 57 12 72
Spinal Muscular Atrophy, Adult Form 57 12 53 59
Spinal Muscular Atrophy Type 4 53 29 6
Spinal Muscular Atrophy 4 53 74 72
Sma4 57 59 74
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive 57 53
Adult Spinal Muscular Atrophy 12 15
Spinal Muscular Atrophy-4 57 13
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive 74
Proximal Spinal Muscular Atrophy Type 4 59
Adult-Onset Spinal Muscular Atrophy 53
Spinal Muscular Atrophy Adult Form 74
Atrophy, Muscular, Spinal, Type Iv 40
Spinal Muscular Atrophy Type Iv 74
Myelopathic Muscular Atrophy 72
Sma Type Iv 59
Sma Type 4 59
Sma-Iv 59
Sma Iv 74
Sma 4 53

Characteristics:

Orphanet epidemiological data:

59
proximal spinal muscular atrophy type 4
Inheritance: Autosomal recessive; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
mean age at onset 35 years (range 20-60)
slow disease progression
allelic disorder to spinal muscular atrophy type i ()


HPO:

32
spinal muscular atrophy, type iv:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050529
OMIM 57 271150
MeSH 44 D009134
ICD10 via Orphanet 34 G12.1
UMLS via Orphanet 73 C1838230
Orphanet 59 ORPHA83420
MedGen 42 C1838230
UMLS 72 C0270765 C1838230 C2931844

Summaries for Spinal Muscular Atrophy, Type Iv

UniProtKB/Swiss-Prot : 74 Spinal muscular atrophy 4: 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. Onset is in adulthood, disease progression is slow, and patients can stand and walk.

MalaCards based summary : Spinal Muscular Atrophy, Type Iv, also known as spinal muscular atrophy, adult form, is related to spinal muscular atrophy and spinal muscular atrophy, type i, and has symptoms including tremor of hands An important gene associated with Spinal Muscular Atrophy, Type Iv is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is RNA transport. The drugs 4-Aminopyridine and Potassium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and tongue, and related phenotypes are tongue fasciculations and spinal muscular atrophy

Disease Ontology : 12 A survival motor neuron spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has material basis in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

More information from OMIM: 271150

Related Diseases for Spinal Muscular Atrophy, Type Iv

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
Congenital Benign Spinal Muscular Atrophy Dominant

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 32.5 VAPB SMN2 SMN1
2 spinal muscular atrophy, type i 32.4 SMN2 SMN1
3 spinal muscular atrophy, type iii 32.3 SMN2 SMN1
4 proximal spinal muscular atrophy 32.0 SMN2 SMN1
5 progressive muscular atrophy 30.1 SMN2 SMN1
6 motor neuron disease 29.7 VAPB SMN2 SMN1
7 muscular atrophy 29.7 VAPB SMN2 SMN1
8 amyotrophic lateral sclerosis 1 29.5 VAPB SMN2 SMN1
9 spinal muscular atrophy, distal, autosomal recessive, 4 11.8
10 neuronopathy, distal hereditary motor, type iia 11.5
11 spinal muscular atrophy, late-onset, finkel type 11.3
12 lateral sclerosis 10.2
13 survival motor neuron spinal muscular atrophy 10.2 SMN2 SMN1
14 arthrogryposis multiplex congenita, neurogenic type 10.2 SMN2 SMN1
15 culler-jones syndrome 10.2 SMN2 SMN1
16 spinal muscular atrophy, type ii 10.1 SMN2 SMN1
17 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 SMN2 SMN1
18 spinal disease 10.1 SMN2 SMN1
19 spinal and bulbar muscular atrophy, x-linked 1 10.1
20 allergic hypersensitivity disease 10.0
21 hypotonia 10.0
22 anterior horn cell disease 10.0 SMN2 SMN1
23 myopathy 10.0
24 autosomal recessive disease 10.0
25 constipation 10.0
26 intestinal pseudo-obstruction 10.0
27 myotonia 10.0
28 neuromuscular disease 9.9 SMN2 SMN1
29 peripheral nervous system disease 9.8 SMN2 SMN1
30 nervous system disease 9.6 SMN2 SMN1
31 muscle tissue disease 9.6 SMN2 SMN1 MSTN
32 muscular disease 9.1 SMN2 SMN1 MSTN FST

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



Diseases related to Spinal Muscular Atrophy, Type Iv

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type Iv

Human phenotypes related to Spinal Muscular Atrophy, Type Iv:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 tongue fasciculations 32 HP:0001308
2 spinal muscular atrophy 32 HP:0007269
3 areflexia of lower limbs 32 HP:0002522
4 proximal muscle weakness 32 HP:0003701
5 proximal amyotrophy 32 HP:0007126
6 emg: neuropathic changes 32 HP:0003445
7 hand tremor 32 HP:0002378
8 degeneration of anterior horn cells 32 HP:0002398

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tongue fasciculations
hand tremor
emg shows neurogenic abnormalities
muscle atrophy, proximal
muscle weakness, proximal, symmetric (lower limbs more affected than upper limbs) due to motor neuronopathy
more
Muscle Soft Tissue:
hypertrophy of calves (in 3 of 6 patients)

Clinical features from OMIM:

271150

UMLS symptoms related to Spinal Muscular Atrophy, Type Iv:


tremor of hands

MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Type Iv:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 FST MSTN SMN2 VAPB

Drugs & Therapeutics for Spinal Muscular Atrophy, Type Iv

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
4-Aminopyridine Approved Phase 2, Phase 3 504-24-5 1727
2 Potassium Channel Blockers Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Columbia SMA Project: 4-AP as a Potential SMA Therapeutic Agent and Biological Mechanisms of Action Completed NCT01645787 Phase 2, Phase 3 4-aminopyridine;Placebo
2 International Spinal Muscular Atrophy Patient Registry Completed NCT00466349
3 Effect of Nusinersen on Motor Function in Adult Patients With Spinal Muscular Atrophy Types 2 and 3 Recruiting NCT03878030 nusinersen

Search NIH Clinical Center for Spinal Muscular Atrophy, Type Iv

Genetic Tests for Spinal Muscular Atrophy, Type Iv

Genetic tests related to Spinal Muscular Atrophy, Type Iv:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy Type 4 29 SMN1

Anatomical Context for Spinal Muscular Atrophy, Type Iv

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

41
Spinal Cord, Tongue

Publications for Spinal Muscular Atrophy, Type Iv

Articles related to Spinal Muscular Atrophy, Type Iv:

(show all 18)
# Title Authors PMID Year
1
Clinical utility gene card for: proximal spinal muscular atrophy. 71
22510849 2012
2
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. 8
20705738 2010
3
Consensus statement for standard of care in spinal muscular atrophy. 71
17761659 2007
4
Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. 8
16775228 2006
5
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. 8
16508748 2006
6
Gene conversion events in adult-onset spinal muscular atrophy. 8
14705979 2004
7
Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. 8
12915451 2003
8
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. 71
12872254 2003
9
Spinal Muscular Atrophy 71
20301526 2000
10
SMN gene deletions in adult-onset spinal muscular atrophy. 8
8551862 1995
11
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. 71
7581461 1995
12
Genetic basis of adult-onset spinal muscular atrophy. 8
7475624 1995
13
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. 8
8595417 1995
14
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. 8
7658877 1995
15
A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity. 8
737522 1978
16
HEREDITARY PROXIMAL NEUROGENIC MUSCULAR ATROPHY IN ADULT. 8
14295959 1965
17
Using General Anesthesia plus Muscle Relaxant in a Patient with Spinal Muscular Atrophy Type IV: A Case Report. 38
22606392 2011
18
[Frequency of hereditary neurologic diseases. A clinical study]. 38
8247316 1993

Variations for Spinal Muscular Atrophy, Type Iv

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMN1 deletion Pathogenic rs1554082110 5:70241893-70242003 5:70946066-70946176
2 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
3 SMN1 NM_000344.3(SMN1): c.835-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs772466166 5:70247765-70247765 5:70951938-70951938

Expression for Spinal Muscular Atrophy, Type Iv

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

Pathways for Spinal Muscular Atrophy, Type Iv

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

# Super pathways Score Top Affiliating Genes
1 10.84 SMN2 SMN1

GO Terms for Spinal Muscular Atrophy, Type Iv

Cellular components related to Spinal Muscular Atrophy, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.4 SMN2 SMN1
2 perikaryon GO:0043204 9.37 SMN2 SMN1
3 Cajal body GO:0015030 9.32 SMN2 SMN1
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN2 SMN1
5 SMN-Sm protein complex GO:0034719 9.16 SMN2 SMN1
6 SMN complex GO:0032797 8.96 SMN2 SMN1
7 Gemini of coiled bodies GO:0097504 8.62 SMN2 SMN1

Biological processes related to Spinal Muscular Atrophy, Type Iv according to GeneCards Suite gene sharing:

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

Sources for Spinal Muscular Atrophy, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....