MCID: SPN252
MIFTS: 27

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

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

Aliases & Classifications for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

MalaCards integrated aliases for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

Name: Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 54 24 25 71 13
Smapme 24 25 71
Hereditary Myoclonus with Progressive Distal Muscular Atrophy 25 71
Jankovic-Rivera Syndrome 25 56
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome 56
Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy 24
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome 56
Jankovic Rivera Syndrome 69
Sma-Pme 25

Characteristics:

Orphanet epidemiological data:

56
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset of muscle weakness around age 5 years
onset of seizures around 7 to 12 years
seizures are sensitive to hyperventilation


HPO:

32
spinal muscular atrophy with progressive myoclonic epilepsy:
Onset and clinical course progressive juvenile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

UniProtKB/Swiss-Prot : 71 Spinal muscular atrophy with progressive myoclonic epilepsy: An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency.

MalaCards based summary : Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, also known as smapme, is related to jankovic rivera syndrome and spinal muscular atrophy, and has symptoms including dementia, gait disturbance and neurological speech impairment. An important gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy is ASAH1 (N-Acylsphingosine Amidohydrolase 1). Affiliated tissues include tongue.

Genetics Home Reference : 25 Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).

OMIM : 54
Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic seizures. The disorder is progressive, and usually results in loss of ambulation and early death from respiratory insufficiency (summary by Zhou et al., 2012). (159950)

Wikipedia : 72 Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera... more...

Related Diseases for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 jankovic rivera syndrome 12.2
2 spinal muscular atrophy 10.4
3 epilepsy 10.4
4 muscular atrophy 10.4
5 status epilepticus 10.0

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:



Diseases related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Symptoms & Phenotypes for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
facial weakness

Respiratory:
recurrent respiratory infections
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
muscle weakness, proximal
gowers sign
muscle atrophy
emg shows chronic denervation
fasciculations
more
Laboratory- Abnormalities:
normal serum creatine kinase

Abdomen- Gastroin testinal:
difficulty swallowing

Skeletal- Spine:
scoliosis

Neurologic- Central Nervous System:
tremor
seizures
generalized seizures
frequent falls
difficulty walking
more
Neurologic- Peripheral Nervous System:
areflexia

Head And Neck- Mouth:
tongue fasciculations


Clinical features from OMIM:

159950

Human phenotypes related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dementia 56 32 frequent (33%) Frequent (79-30%) HP:0000726
2 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
3 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
4 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
5 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
6 generalized myoclonic seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002123
7 progressive distal muscular atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008955
8 scoliosis 32 HP:0002650
9 myoclonus 32 HP:0001336
10 recurrent respiratory infections 32 HP:0002205
11 tremor 32 HP:0001337
12 gowers sign 32 HP:0003391
13 frequent falls 32 HP:0002359
14 areflexia 32 HP:0001284
15 respiratory insufficiency due to muscle weakness 32 HP:0002747
16 spinal muscular atrophy 32 HP:0007269
17 difficulty walking 32 HP:0002355
18 facial palsy 32 HP:0010628
19 degeneration of anterior horn cells 32 HP:0002398
20 tongue fasciculations 32 HP:0001308

UMLS symptoms related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:


muscular fasciculation, myoclonus, seizures, tremor, facial paresis

Drugs & Therapeutics for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Genetic Tests for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Genetic tests related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

id Genetic test Affiliating Genes
1 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 24 ASAH1

Anatomical Context for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

MalaCards organs/tissues related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

39
Tongue

Publications for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Articles related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

id Title Authors Year
1
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. ( 28251733 )
2017
2
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation. ( 27723502 )
2016
3
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. ( 26526000 )
2015
4
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. ( 24164096 )
2013
5
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. ( 12571787 )
2002

Variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

71
id Symbol AA change Variation ID SNP ID
1 ASAH1 p.Thr42Met VAR_068722 rs145873635
2 ASAH1 p.Lys152Asn VAR_072247 rs200455852

ClinVar genetic disease variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ASAH1 NM_004315.5(ASAH1): c.173C> T (p.Thr58Met) single nucleotide variant Pathogenic rs145873635 GRCh37 Chromosome 8, 17933050: 17933050
2 ASAH1 NC_000008.11: g.(?_18051554)_(18107050_?)del deletion Pathogenic GRCh37 Chromosome 8, 17909063: 17964559
3 ASAH1 NM_004315.5(ASAH1): c.898G> T (p.Gly300Ter) single nucleotide variant Pathogenic rs794729663 GRCh37 Chromosome 8, 17917148: 17917148

Expression for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Search GEO for disease gene expression data for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.

Pathways for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

GO Terms for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Sources for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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42 MeSH
43 MESH via Orphanet
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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