MCID: SPN252
MIFTS: 29

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Categories: Genetic diseases, Rare diseases, Neuronal 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 57 76 25 75 13
Smapme 57 25 75
Hereditary Myoclonus with Progressive Distal Muscular Atrophy 25 75
Jankovic-Rivera Syndrome 25 59
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome 59
Myoclonus, Hereditary, with Progressive Distal Muscular Atrophy 57
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome 59
Atrophy, Muscular, Spinal, with Progressive Myoclonic Epilepsy 40
Myoclonus Hereditary Progressive Distal Muscular Atrophy 53
Jankovic Rivera Syndrome 73
Sma-Pme 25

Characteristics:

Orphanet epidemiological data:

59
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
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 juvenile onset progressive
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

UniProtKB/Swiss-Prot : 75 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 myoclonic epilepsy of unverricht and lundborg, and has symptoms including muscular fasciculation, myoclonus and seizures. An important gene associated with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy is ASAH1 (N-Acylsphingosine Amidohydrolase 1). Affiliated tissues include tongue, and related phenotypes are gait disturbance and neurological speech impairment

OMIM : 57 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)

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2590Disease definitionSpinal muscular atrophy-progressive myoclonic epilepsysyndrome 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.

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).

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 jankovic rivera syndrome 12.4
2 myoclonic epilepsy of unverricht and lundborg 10.5
3 spinal muscular atrophy 10.5
4 epilepsy 10.5
5 muscular atrophy 10.5
6 status epilepticus 10.1

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:

57
Neurologic Central Nervous System:
seizures
tremor
generalized seizures
difficulty walking
frequent falls
more
Respiratory:
recurrent respiratory infections
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
fasciculations
gowers sign
muscle atrophy
muscle weakness, proximal
emg shows chronic denervation
more
Head And Neck Face:
facial weakness

Laboratory Abnormalities:
normal serum creatine kinase

Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Mouth:
tongue fasciculations

Abdomen Gastrointestinal:
difficulty swallowing


Clinical features from OMIM:

159950

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

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
2 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
3 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
4 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
5 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
6 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
7 progressive distal muscular atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008955
8 tremor 32 HP:0001337
9 scoliosis 32 HP:0002650
10 facial palsy 32 HP:0010628
11 recurrent respiratory infections 32 HP:0002205
12 respiratory insufficiency due to muscle weakness 32 HP:0002747
13 myoclonus 32 HP:0001336
14 areflexia 32 HP:0001284
15 difficulty walking 32 HP:0002355
16 frequent falls 32 HP:0002359
17 oral-pharyngeal dysphagia 32 HP:0200136
18 tongue fasciculations 32 HP:0001308
19 degeneration of anterior horn cells 32 HP:0002398
20 gowers sign 32 HP:0003391
21 spinal muscular atrophy 32 HP:0007269

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


muscular fasciculation, myoclonus, seizures, tremor, facial paresis, myoclonic seizures

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

Anatomical Context for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

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

41
Tongue

Publications for Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Articles related to Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy:

# Title Authors Year
1
Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. ( 29169047 )
2018
2
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. ( 28251733 )
2017
3
Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation. ( 27723502 )
2016
4
Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. ( 26526000 )
2015
5
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. ( 24164096 )
2013
6
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:

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 ASAH1 NM_177924.4(ASAH1): c.125C> T (p.Thr42Met) single nucleotide variant Pathogenic/Likely pathogenic rs145873635 GRCh37 Chromosome 8, 17933050: 17933050
2 ASAH1 NM_177924.4(ASAH1): c.125C> T (p.Thr42Met) single nucleotide variant Pathogenic/Likely pathogenic rs145873635 GRCh38 Chromosome 8, 18075541: 18075541
3 ASAH1 NC_000008.11: g.(?_18051554)_(18107050_?)del deletion Pathogenic GRCh37 Chromosome 8, 17909063: 17964559
4 ASAH1 NC_000008.11: g.(?_18051554)_(18107050_?)del deletion Pathogenic GRCh38 Chromosome 8, 18051554: 18107050
5 ASAH1 NM_004315.5(ASAH1): c.898G> T (p.Gly300Ter) single nucleotide variant Pathogenic rs794729663 GRCh37 Chromosome 8, 17917148: 17917148
6 ASAH1 NM_004315.5(ASAH1): c.898G> T (p.Gly300Ter) single nucleotide variant Pathogenic rs794729663 GRCh38 Chromosome 8, 18059639: 18059639
7 ASAH1 NM_004315.5(ASAH1): c.504A> C (p.Lys168Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200455852 GRCh37 Chromosome 8, 17921967: 17921967
8 ASAH1 NM_004315.5(ASAH1): c.504A> C (p.Lys168Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs200455852 GRCh38 Chromosome 8, 18064458: 18064458
9 ASAH1 NM_004315.5(ASAH1): c.458A> G (p.Tyr153Cys) single nucleotide variant Uncertain significance rs371666412 GRCh38 Chromosome 8, 18064504: 18064504
10 ASAH1 NM_004315.5(ASAH1): c.458A> G (p.Tyr153Cys) single nucleotide variant Uncertain significance rs371666412 GRCh37 Chromosome 8, 17922013: 17922013

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

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74 UMLS via Orphanet
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