Parkinsonism with polyneuropathy
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare parkinsonian syndrome due to neurodegenerative disease characterized by resting tremor (which may initially be asymmetric), rigidity, and bradykinesia. Polyneuropathy with neurogenic electromyography findings is present in the majority of the patients and reported in young age (early twenties) whereas parkinsonian symptoms are visible later in life (between 40 and 70 years of age). Additional clinical symptoms may include anxiety and depression. Mild diffuse muscular atrophy can also be detected in some patients.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Parkinsonism with polyneuropathy | |
| fr | Parkinsonisme avec polyneuropathie | |
| de | Parkinsonismus mit Polyneuropathie | |
| es | Parkinsonismo con polineuropatía | |
| it | Parkinsonismo con polineuropatia | |
| nl | Parkinsonisme met polyneuropathie | |
| pt | Parkinsonismo com polineuropatia | |
| pl | Parkinsonizm z polineuropatią | |
| cs | Parkinsonismus s polyneuropatií | |
| uk | Паркінсонізм з полінейропатією |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619279 | E | validated | |
| ICD-10 | G20 | NTBT | attributed | validated |
| ICD-11 | 8A00.Y | NTBT | attributed | validated |
| MONDO | 0036193 | E | validated | |
| UMLS | C5543299 | 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 (5):
- ORPHA:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:307055Rare parkinsonian syndrome due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306666Rare parkinsonian syndrome due to neurodegenerative disease
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 | 4 cases | Worldwide | Case(s) | Validated | 33141179[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33141179[PMID]_ORPHANET |
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/611237
- This record as JSON: /data/d/611237.json