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Multiple system atrophy, parkinsonian type

ORPHA:98933Clinical subtypeNot applicableAdult

Ассоциированные гены (1)

COQ2
coenzyme Q2, polyprenyltransferase
Major susceptibility factor in
OMIM: 609825

Фенотипы (30)

Частый (30–79%)24
HP:0000716Depression
HP:0000739Anxiety
HP:0000741Apathy
HP:0001300Parkinsonism
HP:0002019Constipation
HP:0002063Rigidity
HP:0002067Bradykinesia
HP:0002172Postural instability
HP:0002310Orofacial dyskinesia
HP:0002322Resting tremor
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: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:0000640Gaze-evoked nystagmus
HP:0001260Dysarthria
HP:0002066Gait ataxia
HP:0002073Progressive cerebellar ataxia
HP:0002174Postural tremor
HP:0100595Camptocormia

Эпидемиология (1)

Point prevalence
1-9 / 100 000
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы