ORPHA:2590
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Synonyms: Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome · SMA-PME
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome · SMA-PME |
| fr | Syndrome d'amyotrophie spinale proximale-épilepsie myoclonique progressive | SMA-PME · Syndrome de Jankovic-Rivera |
| de | Spinale Muskelatrophie-progressive Myoklonusepilepsie-Syndrom | Hereditärer Myoklonus-progressive distale Muskelatrophie-Syndrom · Jankovic-Rivera-Syndrom |
| es | Síndrome de atrofia muscular espinal-epilepsia mioclónica progresiva | Síndrome de Jankovic-Rivera · Síndrome hereditario de mioclonías-atrofia muscular distal progresiva |
| it | Atrofia muscolare spinale - epilessia mioclonica progressiva | Sindrome di Jankovic-Rivera · Sindrome mioclonia ereditaria-atrofia muscolare distale progressiva |
| nl | Spinale musculaire atrofie - progressieve myoclonusepilepsie-syndroom | Erfelijke myoclonus - progressieve distale musculaire atrofie-syndroom · Erfelijke myoclonus - progressieve distale spieratrofie-syndroom · Spinale spieratrofie - progressieve myoclonische epilepsie-syndroom · Syndroom van Jankovic-Rivera |
| pt | Síndrome de atrofia muscular espinhal-epilepsia mioclónica progressiva | Síndrome Jankovi-Rivera · Síndrome de mioclonia hereditária-atrofia muscular distal progressiva |
| pl | Dziedziczny mioklonus - postępująca atrofia mięśni dystalnych | Zespół Jankovica i Rivera |
| cs | Spinální svalová atrofie s progresivní myoklonickou epilepsií | Syndrom zahrnující hereditární myoklonus a progresivní distální svalovou atrofii · Jankovicův-Riverův syndrom · Jankovic-Riverův syndrom |
| uk | Синдром прогресуючої спінальної мязової атрофії та міоклонічної епілепсії | Спадковий синдром міоклонусу - прогресуючої дистальної мязової атрофії · Синдром Янковича-Рівери · SMA-PME |
| zh | 脊髓性肌萎缩-进行性肌阵挛性癫痫综合征 | 遗传性肌阵挛-进行性远端肌肉萎缩综合征 |
| tr | Spinal müsküler atrofi-ilerleyici miyoklonik epilepsi sendromu | SMA-PME · Jankovic-Rivera sendromu · Kalıtsal miyoklonus-ilerleyici distal kas atrofisi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 159950 | E | validated | |
| ICD-10 | G25.3 | NTBT | attributed | validated |
| MONDO | 0008045 | E | validated | |
| MeSH | C537563 | E | validated | |
| UMLS | C1834569 | E | validated | |
| GARD | 3875 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases - ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASAH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:735 | ENSG00000104763 | 613468 | 8p22 | N-acylsphingosine amidohydrolase 1 | 22703880[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
33 annotations · validated 2020-06-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001250 | Seizure | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0002366 | Abnormal lower motor neuron morphology | |
| HP:0004302 | Functional motor deficit | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001336 | Myoclonus | |
| Frequent (79-30%) | ||
| HP:0010819 | Atonic seizure | |
| HP:0000708 | Atypical behavior | |
| HP:0002312 | Clumsiness | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0001337 | Tremor | |
| HP:0011147 | Typical absence seizure | |
| Occasional (29-5%) | ||
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0025097 | Eyelid myoclonus | |
| HP:0001757 | High-frequency sensorineural hearing impairment | |
| HP:0002540 | Inability to walk | |
| HP:0045084 | Limb myoclonus | |
| HP:0001268 | Mental deterioration | |
| HP:0032667 | Myoclonic status epilepticus | |
| HP:0002878 | Respiratory failure | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002515 | Waddling gait | |
| Very rare (<4-1%) | ||
| HP:0002015 | Dysphagia | |
| HP:0001249 | Intellectual disability | |
| Excluded (0%) | ||
| HP:0001371 | Flexion contracture | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001609 | Hoarse voice | |
| HP:0200036 | Skin nodule | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29595935[PMID]_30029679[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2590
- This record as JSON: /data/d/2590.json