Tremor-nystagmus-duodenal ulcer syndrome
historical
Synonyms: Neuhauser-Daly-Magnelli syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tremor-nystagmus-duodenal ulcer syndrome | Neuhauser-Daly-Magnelli syndrome |
| fr | Syndrome de tremblement essentiel-nystagmus-ulcère | Syndrome de Neuhauser-Daly-Magnelli |
| de | Tremor - Nystagmus - Ulkus | |
| es | Síndrome de temblor esencial-nistagmo-úlcera duodenal | Síndrome de Neuhauser-Daly-Magnelli |
| it | Tremore essenziale - nistagmo - ulcera | Sindrome di Neuhauser-Daly-Magnelli |
| nl | Tremor - nystagmus - duodenale ulcus-syndroom | Syndroom van Neuhauser-Daly-Magnelli |
| pt | Síndrome de tremor-nistagmo-úlcera duodenal | Síndrome Neuhauser-Daly-Magnelli |
| pl | Drżenie - oczopląs - wrzód dwunastnicy | Zespół Neuhausera, Daly i Magnelli |
| cs | Syndrom zahrnující tremor, nystagmus a duodenální vřed | Neuhauserův-Dalyho-Magnelliové syndrom · Neuhauser-Daly-Magnelliové syndrom |
| uk | Синдром виразки дванадцятипалої кишки-тремору-ністагму | Синдром Нойхаузера-Дейлі-Магнеллі |
| zh | 震颤-眼震-十二指肠溃疡综合征 | Neuhauser-Daly-Magnelli综合征 |
| tr | Tremor-nistagmus-duodenal ülser sendromu | Neuhauser-Daly-Magnelli sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190310 | E | validated | |
| ICD-10 | G25.0 | NTBT | attributed | validated |
| MONDO | 0008591 | E | validated | |
| MeSH | C536406 | E | validated | |
| UMLS | C1860860 | 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 (1):
- ORPHA:306712Rare tremor disorder
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 1248168[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1248168[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
4 annotations · validated 2017-09-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002588 | Duodenal ulcer | |
| HP:0000639 | Nystagmus | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3350
- This record as JSON: /data/d/3350.json