Fatal familial insomnia
ORPHA:466DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)4
HP:0000726Dementia
HP:0001336Myoclonus
HP:0012332Abnormal autonomic nervous system physiology
HP:0100785Insomnia
Частый (30–79%)21
HP:0000712Emotional lability
HP:0000716Depression
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0000822Hypertension
HP:0000975Hyperhidrosis
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001649Tachycardia
HP:0002015Dysphagia
HP:0002071Abnormality of extrapyramidal motor function
HP:0006511Laryngeal stridor
HP:0006979Sleep-wake cycle disturbance
HP:0009926Epiphora
HP:0010535Sleep apnea
HP:0012660Thalamic hypometabolism in FDG PET
HP:0031843Bradyphrenia
HP:0033687Short term memory impairment
HP:0100543Cognitive impairment
HP:5200044Reduced attention regulation
HP:5200360Short rem sleep
Периодический (5–29%)8
HP:0000651Diplopia
HP:0001824Weight loss
HP:0001945Fever
HP:0002019Constipation
HP:0002371Loss of speech
HP:0003118Increased circulating cortisol level
HP:0007256Abnormal pyramidal sign
HP:0012689Abnormal pineal melatonin secretion
Исключён (0%)1
HP:0010850EEG with spike-wave complexes
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 27 | Worldwide | Case(s) |
| 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)