Atypical juvenile parkinsonism
ORPHA:391411DiseaseAutosomal recessive, Not applicableAdolescent, Adult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PODXL | podocalyxin like | Disease-causing germline mutation(s) in | gene with protein product | 602632 |
| DNAJC6 | DnaJ heat shock protein family (Hsp40) member C6 | Disease-causing germline mutation(s) in | gene with protein product | 608375 |
| SYNJ1 | synaptojanin 1 | Disease-causing germline mutation(s) in | gene with protein product | 604297 |
Фенотипы (HPO)27
Очень частый (80–99%)8
HP:0002540Inability to walk
HP:0007164Slowed slurred speech
HP:0000338Hypomimic face
HP:0001332Dystonia
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002172Postural instability
HP:0002322Resting tremor
Частый (30–79%)16
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001265Hyporeflexia
HP:0001621Weak voice
HP:0001761Pes cavus
HP:0002066Gait ataxia
HP:0002304Akinesia
HP:0002650Scoliosis
HP:0004305Involuntary movements
HP:0007256Abnormal pyramidal sign
HP:0007311Short stepped shuffling gait
HP:0008969Leg muscle stiffness
HP:0012378Fatigue
HP:0012444Brain atrophy
HP:0012638Abnormality of nervous system physiology
HP:0100022Abnormality of movement
Периодический (5–29%)3
HP:0001336Myoclonus
HP:0002362Shuffling gait
HP:0002425Anarthria
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)