ORPHA:508093
MEPAN syndrome
Synonyms: Autosomal recessive childhood-onset dystonia, DYT29 type · Childhood-onset generalized dystonia-optic atrophy syndrome · DYT29 · Dystonia 29 · Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MEPAN syndrome | Autosomal recessive childhood-onset dystonia, DYT29 type · Childhood-onset generalized dystonia-optic atrophy syndrome · DYT29 · Dystonia 29 · Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome |
| fr | Syndrome neurodégénératif associée à l'énoyl-CoA réductase mitochondriale | DYT29 · Dystonie 29 · Dystonie autosomique récessive de l'enfant, type DYT29 · Syndrome MEPAN · Syndrome de dystonie généralisée-atrophie optique de l'enfant |
| de | MEPAN-Syndrom | Autosomal-rezessive Dystonie mit Beginn im Kindesalter, Typ DYT29 · DYT29 · Dystonie 29 · Im Kindesalter beginnende generalisierte Dystonie-Optikusatrophie-Syndrom · Mitochondriale Enoyl-CoA Reduktase-Protein-assoziierte Neurodegeneration |
| es | Síndrome MEPAN | Síndrome neurodegenerativo asociado a la proteína mitocondrial enoil CoA reductasa · DYT29 · Distonía 29 · Distonía autosómica recesiva de inicio en la infancia tipo DYT29 · Síndrome de distonía generalizada-atrofia óptica de inicio en la infancia |
| it | Sindrome MEPAN | DYT29 · Distonia 29 · Distonia autosomica recessiva a esordio nell'infanzia, tipo DYT29 · Sindrome distonia generalizzata-atrofia ottica a esordio nell'infanzia · Sindrome neurodegenerativa associata alla proteina enoil-CoA-reduttasi mitocondriale |
| nl | MEPAN-syndroom | Autosomaal recessieve dystonie met aanvang in de kindertijd, DYT29-type · DYT29 · Dystonie 29 · Gegeneraliseerde dystonie met aanvang in de kindertijd - opticusatrofie-syndroom · Mitochondriale enoyl-CoA-reductase proteïne-geassocieerde neurodegeneratie-syndroom |
| pt | Síndrome MEPAN | |
| pl | Zespół MEPAN | DYT29 · Dystonia 29 · Autosomalna recesywna dystonia o wczesnym początku w dzieciństwie, typu DYT29 · Zespół uogólnionej dystonii wieku dziecięcego z zanikiem nerwu wzrokowego · Zespół neurozwyrodnieniowy związany z białkiem mitochondrialnym reduktazy enoilo-CoA |
| cs | Syndrom MEPAN | DYT29 · Dystonie 29 · Syndrom neurodegenerace asociovaný s proteinem mitochondriální enoyl CoA reduktázy · Autozomálně recesivní dětská dystonie, typ DYT29 · Syndrom zahrnující generalizovanou dystonii s nástupem v dětství a oční atrofii |
| uk | Синдром MEPAN | Автосомно-рецесивна дистонія, що починається в дитинстві, тип DYT29 · Синдром генералізованої дистонії-атрофії зорового нерва, що починається в дитинстві · Дистонія 29 · DYT29 · Мітохондріальна енойл КоА-редуктаза - протеїн-асоційований синдром нейродегенерації |
| zh | MEPAN综合症 | 线粒体烯酰CoA还原酶蛋白相关神经退行性变性综合征 |
| tr | MEPAN sendromu | DYT29 · Distoni 29 · Otozomal çekinik çocukluk çağında başlayan distoni, DYT29 tipi · Çocukluk çağı başlangıçlı jeneralize distoni-optik atrofi sendromu · Mitokondriyal enoyl CoA redüktaz proteini ile ilişkili nörodejenerasyon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617282 | E | validated | |
| ICD-10 | G24.1 | NTBT | attributed | validated |
| ICD-11 | 8A02.0Y | NTBT | attributed | validated |
| MONDO | 15003 | E | validated | |
| UMLS | C4310634 | E | validated | |
| GARD | 13488 | 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 (6):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:401854Lipoic acid biosynthesis defect
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MECR | Disease-causing germline mutation(s) in | Assessed | HGNC:19691 | ENSG00000116353 | 608205 | 1p35.3 | mitochondrial trans-2-enoyl-CoA reductase | 27817865[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 27817865[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27817865[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
31 annotations · validated 2022-09-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0031206 | Striatal T2 hyperintensity | |
| Frequent (79-30%) | ||
| HP:0012179 | Craniofacial dystonia | |
| HP:0100660 | Dyskinesia | |
| HP:0001288 | Gait disturbance | |
| HP:0002451 | Limb dystonia | |
| HP:0001270 | Motor delay | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0007663 | Reduced visual acuity | |
| Occasional (29-5%) | ||
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0001251 | Ataxia | |
| HP:0002530 | Axial dystonia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002072 | Chorea | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0008314 | Decreased activity of mitochondrial complex II | |
| HP:0008347 | Decreased activity of mitochondrial complex IV | |
| HP:0002015 | Dysphagia | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0025312 | Esophoria | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002315 | Headache | |
| HP:0032005 | Hemidystonia | |
| HP:0001252 | Hypotonia | |
| HP:0001324 | Muscle weakness | |
| HP:0001336 | Myoclonus | |
| HP:0001257 | Spasticity | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31070877[PMID]_33401012[PMID]_27817865[PMID]_31137067[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/508093
- This record as JSON: /data/d/508093.json