SMAPME
MCID: SPN252
MIFTS: 34

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMAPME)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 56 12 74 52 25 73 13
Jankovic-Rivera Syndrome 12 74 52 25 58
Jankovic Rivera Syndrome 29 6 43 71
Sma-Pme 12 52 25 58
Smapme 56 12 25 73
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome 12 52 58
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome 52 58
Hereditary Myoclonus with Progressive Distal Muscular Atrophy 25 73
Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy 56
Atrophy, Muscular, Spinal, with Progressive Myoclonic Epilepsy 39
Myoclonus Hereditary Progressive Distal Muscular Atrophy 52

Characteristics:

Orphanet epidemiological data:

58
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
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:

31
spinal muscular atrophy with progressive myoclonic epilepsy:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

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). In individuals with SMA-PME, spinal muscular atrophy results from a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). After a few years of normal development, affected children begin experiencing muscle weakness and atrophy in the lower limbs, causing difficulty walking and frequent falls. The muscles in the upper limbs are later affected, and soon the muscle weakness and atrophy spreads throughout the body. Once weakness reaches the muscles used for breathing and swallowing, it leads to life-threatening breathing problems and increased susceptibility to pneumonia. A few years after the muscle weakness begins, affected individuals start to experience recurrent seizures (epilepsy). Most people with SMA-PME have a variety of seizure types. In addition to myoclonic epilepsy, they may have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals can also have absence seizures, which cause loss of consciousness for a short period that may or may not be accompanied by muscle jerks. In SMA-PME, seizures often increase in frequency over time and are usually not well-controlled with medication. Individuals with SMA-PME may also have episodes of rhythmic shaking (tremors), usually in the hands; these tremors are not thought to be related to epilepsy. Some people with SMA-PME develop hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss). Individuals with SMA-PME have a shortened lifespan; they generally live into late childhood or early adulthood. The cause of death is often respiratory failure or pneumonia.

MalaCards based summary : Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, also known as jankovic-rivera syndrome, is related to spinal muscular atrophy and myoclonic epilepsy of unverricht and lundborg, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy is ASAH1 (N-Acylsphingosine Amidohydrolase 1). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are neurological speech impairment and gait disturbance

Disease Ontology : 12 A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has material basis in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2590 Definition Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. Visit the Orphanet disease page for more resources.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 11.9
2 myoclonic epilepsy of unverricht and lundborg 10.7
3 early myoclonic encephalopathy 10.7
4 muscular atrophy 10.7
5 epilepsy 10.5
6 motor neuron disease 10.5
7 asah1-related disorders 10.5
8 tremor 10.5
9 farber lipogranulomatosis 10.4
10 sensorineural hearing loss 10.4
11 status epilepticus 10.2
12 lysosomal storage disease 10.2
13 lipogranulomatosis 10.2
14 hypotonia 10.2

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

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

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
4 generalized myoclonic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002123
5 progressive distal muscular atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008955
6 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
7 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
8 scoliosis 31 HP:0002650
9 tremor 31 HP:0001337
10 facial palsy 31 HP:0010628
11 recurrent respiratory infections 31 HP:0002205
12 myoclonus 31 HP:0001336
13 respiratory insufficiency due to muscle weakness 31 HP:0002747
14 areflexia 31 HP:0001284
15 tongue fasciculations 31 HP:0001308
16 spinal muscular atrophy 31 HP:0007269
17 difficulty walking 31 HP:0002355
18 frequent falls 31 HP:0002359
19 gowers sign 31 HP:0003391
20 oral-pharyngeal dysphagia 31 HP:0200136
21 degeneration of anterior horn cells 31 HP:0002398

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
tremor
difficulty walking
frequent falls
myoclonic seizures
more
Respiratory:
recurrent respiratory infections
respiratory insufficiency due to muscle weakness

Head And Neck Mouth:
tongue fasciculations

Head And Neck Face:
facial weakness

Laboratory Abnormalities:
normal serum creatine kinase

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia

Muscle Soft Tissue:
fasciculations
gowers sign
muscle atrophy
muscle weakness, proximal
emg shows chronic denervation
more
Abdomen Gastrointestinal:
difficulty swallowing

Clinical features from OMIM:

159950

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


seizures, tremor, myoclonus, muscular fasciculation, myoclonic seizures, 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

Cochrane evidence based reviews: jankovic rivera syndrome

Genetic Tests for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

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

# Genetic test Affiliating Genes
1 Jankovic Rivera Syndrome 29 ASAH1

Anatomical Context for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

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

40
Brain, Spinal Cord, Tongue

Publications for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Articles related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

(show all 15)
# Title Authors PMID Year
1
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. 61 56 6
24164096 2014
2
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. 56 6
22703880 2012
3
ASAH1-Related Disorders 61 6
29595935 2018
4
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature. 61 56
12571787 2002
5
Hereditary myoclonus and progressive distal muscular atrophy. 56
534421 1979
6
Zebrafish acid ceramidase: Expression in Pichia pastoris GS115and biochemical characterization. 61
30399382 2019
7
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran [Corrigendum]. 61
31372065 2019
8
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran. 61
31213928 2019
9
Acid ceramidase deficiency: Farber disease and SMA-PME. 61
30029679 2018
10
Structural basis for the activation of acid ceramidase. 61
29692406 2018
11
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. 61
29169047 2018
12
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. 61
28251733 2017
13
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation. 61
27723502 2016
14
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. 61
26526000 2015
15
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1. 61
25578555 2015

Variations for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASAH1 NC_000008.10:g.(?_17909063)_(17964559_?)deldeletion Pathogenic 35545 8:17909063-17964559 8:18051554-18107050
2 ASAH1 NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)SNV Pathogenic 180642 rs794729663 8:17917148-17917148 8:18059639-18059639
3 ASAH1 NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)SNV Pathogenic/Likely pathogenic 35544 rs145873635 8:17933050-17933050 8:18075541-18075541
4 ASAH1 NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)SNV Likely pathogenic 180643 rs200455852 8:17921967-17921967 8:18064458-18064458
5 ASAH1 NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)SNV Uncertain significance 362377 rs150268016 8:17919816-17919816 8:18062307-18062307
6 ASAH1 NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)SNV Uncertain significance 375548 rs371666412 8:17922013-17922013 8:18064504-18064504
7 ASAH1 NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)SNV Uncertain significance 560956 rs766257867 8:17919900-17919900 8:18062391-18062391
8 ASAH1 NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)SNV Uncertain significance 560955 rs779888892 8:17933051-17933051 8:18075542-18075542

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

73
# Symbol AA change Variation ID SNP ID
1 ASAH1 p.Thr42Met VAR_068722 rs145873635
2 ASAH1 p.Lys152Asn VAR_072247 rs200455852

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
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9 Cosmic
10 dbSNP
11 DGIdb
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30 HMDB
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32 ICD10
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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