Multiple system atrophy, cerebellar type
ORPHA:227510Clinical subtypeNot applicableAdult
Ассоциированные гены1
Фенотипы (HPO)35
Частый (30–79%)29
HP:0000640Gaze-evoked nystagmus
HP:0000716Depression
HP:0000739Anxiety
HP:0001260Dysarthria
HP:0001618Dysphonia
HP:0002019Constipation
HP:0002066Gait ataxia
HP:0002068Neuromuscular dysphagia
HP:0002070Limb ataxia
HP:0002073Progressive cerebellar ataxia
HP:0002136Broad-based gait
HP:0002172Postural instability
HP:0002174Postural tremor
HP:0002310Orofacial dyskinesia
HP:0002359Frequent falls
HP:0002494Abnormal rapid eye movement sleep
HP:0002530Axial dystonia
HP:0004926Orthostatic hypotension due to autonomic dysfunction
HP:0005341Autonomic bladder dysfunction
HP:0007256Abnormal pyramidal sign
HP:0008652Autonomic erectile dysfunction
HP:0010307Stridor
HP:0010536Central sleep apnea
HP:0010545Downbeat nystagmus
HP:0012332Abnormal autonomic nervous system physiology
HP:0012658Abnormal brain FDG positron emission tomography
HP:0012670Orthostatic syncope
HP:0030015Female anorgasmia
HP:0030880Raynaud phenomenon
Периодический (5–29%)6
HP:0000741Apathy
HP:0001300Parkinsonism
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002322Resting tremor
HP:0100595Camptocormia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)