Leukoencephalopathy-dystonia-motor neuropathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukoencephalopathy-dystonia-motor neuropathy syndrome | |
| fr | Syndrome de leucoencéphalopathie-dystonie-neuropathie motrice | |
| de | Leukoenzephalopathie - Dystonie - motorische Neuropathie | |
| es | Síndrome de leucoencefalopatía-distonía-neuropatía motora | |
| it | Leucoencefalopatia - distonia - neuropatia motoria | |
| nl | Leuko-encefalopathie - dystonie - motorische neuropathie-syndroom | |
| pt | Síndrome de leucoencefalopatia-distonia-neuropatia motora | |
| pl | Leukoencefalopatia- dystonia - neuropatia ruchowa | |
| cs | Syndrom zahrnující leukoencefalopatii, dystonii a motorickou neuropatii | |
| uk | Синдром лейкоенцефалопатії-дистонії-моторної нейропатії | |
| zh | 脑白质病伴肌张力障碍和运动神经病 | |
| tr | Lökoensefalopati-distoni-motor nöropati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613724 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C57.1 | NTBT | attributed | validated |
| MONDO | 0013391 | E | validated | |
| UMLS | C4518784 | E | validated | |
| GARD | 12471 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:79188Peroxisomal beta-oxidation disorder
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10606 | ENSG00000116171 | 184755 | 1p32.3 | sterol carrier protein 2 | 16685654[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 16685654[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | ORPHANET_16685654[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163684
- This record as JSON: /data/d/163684.json