Parkinsons sygdom
En progressiv degenerativ sygdom i centralnervesystemet, karakteriseret ved tab af dopaminproducerende neuroner i substantia nigra og tilstedeværelse af Lewy-legemer i substantia nigra og locus coeruleus. Tegn og symptomer omfatter tremor, som er mest udtalt i hvile, muskelrigiditet, langsommere frivillige bevægelser, en tendens til at falde bagud og et maskeagtigt ansigtsudtryk.
Hvad en diagnose ændrer
LRRK2-kinasehæmmer-studier, substratreduktionsbehandling for GBA-varianter, α-synuklein-målrettede tilgange, dopaminerge lægemidler, levodopa
Også kendt som
paralysis agitans; Parkinson's disease; PD
Omfatter 27 beslægtede undertyper ↓Skjul undertyper ↑
- autosomal dominant Parkinson disease 1
- autosomal dominant Parkinson disease 4
- autosomal dominant Parkinson disease 8
- autosomal recessive early-onset Parkinson disease 23
- autosomal recessive early-onset Parkinson disease 6
- autosomal recessive early-onset Parkinson disease 7
- autosomal recessive juvenile Parkinson disease 2
- autosomal recessive Parkinson disease 14
- early-onset Parkinson disease 20
- juvenile onset Parkinson disease 19A
- juvenile-onset Parkinson disease
- Kufor-Rakeb syndrome
- late-onset Parkinson disease
- paralysis agitans, juvenile, of Hunt
- Parkinson disease 10
- Parkinson disease 12
- Parkinson disease 16
- Parkinson disease 17
- Parkinson disease 19B, early-onset
- Parkinson disease 21
- Parkinson disease 22, autosomal dominant
- Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
- Parkinson disease 3, autosomal dominant
- Parkinson disease, mitochondrial
- parkinsonian-pyramidal syndrome
- parkinsonism due to ATP13A2 deficiency
- young-onset Parkinson disease
