ORPHA:313772
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Synonyms: AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome · Autosomal recessive spastic ataxia type 5 · SPAX5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome · Autosomal recessive spastic ataxia type 5 · SPAX5 |
| fr | Syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie précoce | Ataxie spastique autosomique récessive type 5 · SPAX5 · Syndrome d'ataxie spastique-epilepsie myoclonique-neuropathie associé à AFG3L2 |
| de | Früh beginnende spastische Ataxie-myoklonische Epilepsie-Neuropathie-Syndrom | Ataxie, spastische, autosomal-rezessive, Typ 5 · SPAX5 · Spastische Ataxie, autosomal-rezessive, Typ 5 · Spastische Ataxie-Neuropathie-Syndrom, AFG3L2-assoziiertes |
| es | Síndrome de ataxia espástica-epilepsia mioclónica-neuropatía de inicio precoz | Síndrome de ataxia espástica-neuropatía asociado al gen AFG3L2 · Ataxia espástica autosómica recesiva tipo 5 · SPAX5 · Síndrome asociado al gen AFG3L2 de ataxia espástica-epilepsia mioclónica-neuropatía |
| it | Sindrome da atassia spastica, epilessia mioclonica e neuropatia ad esordio precoce | Atassia spastica autosomica recessiva 5 · SPAX5 · Sindrome atassia spastica-neuropatia, AFG3L2-correlata |
| nl | Vroeg optredende spastisch ataxie - myoclonische epilepsie - neuropathie-syndroom | AFG3L2-geassocieerde spastische ataxie - myoclonische epilepsie - neuropathie-syndroom · Autosomaal recessieve spastische ataxie type 5 · SPAX5 |
| pt | Síndrome de ataxia espástica-epilepsia mioclónica-neuropatia de início precoce | Ataxia espástica autossómica recessiva tipo 5 · SPAX5 · Síndrome de ataxia-neuropatia espástica associada ao AFG3L2 |
| pl | Zespół ataksja spastyczna o wczesnym początku – padaczka miokloniczna - neuropatia | Autosomalna recesywna ataksja spastyczna typu 5 · SPAX5 · Zespół ataksja spastyczna związana z AFG3L2-neuropatia |
| cs | Spastická ataxie a neuropatie s časným nástupem | Syndrom zahrnující AFG3L2-vázanou spastickou ataxii a neuropatii · SPAX5 · Autozomálně recesivní spastická ataxie, typ 5 |
| uk | Синдром ранньої спастичної атаксії-міоклонічної епілепсії-нейропатії | Синдром спастичної атаксії-міоклонічної епілепсії-нейропатії, повязаний з AFG3L2 · Аутосомно-рецесивна спастична атаксія типу 5 · SPAX5 |
| zh | 早发性痉挛性共济失调-肌阵挛性癫痫-神经病变综合征 | AFG3L2基因相关痉挛性共济失调-肌阵挛性癫痫-神经病变综合征 |
| tr | Erken başlangıçlı spastik ataksi-miyoklonik epilepsi-nöropati sendromu | SPAX5 · Otozomal çekinik spastik ataksi tip 5 · AFG3L2-ilişkili spastik ataksi-miyoklonik epilepsi-nöropati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614487 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0013776 | E | validated | |
| UMLS | C3280977 | 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 (3):
- ORPHA:316240Autosomal recessive spastic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:35698Mitochondrial DNA depletion syndrome
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
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 |
|---|---|---|---|---|---|---|---|---|
| AFG3L2 | Disease-causing germline mutation(s) in | Assessed | HGNC:315 | ENSG00000141385 | 604581 | 18p11.21 | AFG3 like matrix AAA peptidase subunit 2 | 22022284[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22022284[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22022284[PMID] |
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
24 annotations · validated 2018-05-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008316 | Abnormal mitochondria in muscle tissue | |
| HP:0001251 | Ataxia | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0003693 | Distal amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0002353 | EEG abnormality | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001336 | Myoclonus | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0000508 | Ptosis | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0002464 | Spastic dysarthria | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001257 | Spasticity | |
Annotation source: 22022284[PMID]_25401298[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313772
- This record as JSON: /data/d/313772.json