Peripheral motor neuropathy-dysautonomia syndrome
historical
Synonyms: Lisker-Garcia-Ramos syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- historical
A rare peripheral motor neuropathy characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, and autonomic dysfunction, manifesting as profuse sweating, cold-induced distal cyanosis, orthostatic hypotension, and esophageal achalasia. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peripheral motor neuropathy-dysautonomia syndrome | Lisker-Garcia-Ramos syndrome |
| fr | Syndrome de neuropathie périphérique-dysautonomie | Syndrome de Lisker-Garcia-Ramos |
| de | Periphere motorische Neuropathie-Dysautonomie-Syndrom | Lisker-Garcia-Ramos-Syndrom |
| es | Síndrome de neuropatía motora periférica-disautonomía | Síndrome de Lisker-García-Ramos |
| it | Neuropatia motoria periferica - disautonomia | Sindrome di Lisker-Garcia-Ramos |
| nl | Perifere motorische neuropathie - dysautonomie-syndroom | Syndroom van Lisker-Garcia-Ramos |
| pt | Síndrome de neuropatia motora periférica-disautonomia | Síndrome Lisker-Garcia-Ramos |
| pl | Obwodowa neuropatia ruchowa - dysautonomia | Zespół Liskera, Garcia i Ramosa |
| cs | Syndrom zahrnující periferní motorickou neuropatii a dysautonomii | Liskerův-García-Ramosův syndrom · Lisker-García-Ramosův syndrom |
| uk | Синдром периферичної моторної нейропатії-дисавтономії | Синдром Ліскера-Гарсія-Рамоса |
| zh | 周围运动神经病变-自主神经功能异常综合征 | Lisker-Garcia-Ramos综合征 |
| tr | Periferik motor nöropati-disotonomi sendromu | Lisker-Garcia-Ramos sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252320 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| ICD-11 | 8C2Y | NTBT | index | validated |
| MONDO | 0009648 | E | validated | |
| MeSH | C536988 | E | validated | |
| UMLS | C1854961 | 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 (2):
- ORPHA:448426Genetic primary orthostatic hypotension
rare genetic diseases - ORPHA:182058Primary orthostatic hypotension
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 | 2 cases | Worldwide | Case(s) | Validated | 7282784[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7282784[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
7 annotations · validated 2017-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002571 | Achalasia | |
| HP:0001063 | Acrocyanosis | |
| HP:0003457 | EMG abnormality | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001265 | Hyporeflexia | |
| HP:0001387 | Joint stiffness | |
| HP:0003202 | Skeletal muscle atrophy | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2400
- This record as JSON: /data/d/2400.json