Fragile X-associated tremor/ataxia syndrome
ORPHA:93256Malformation syndromeX-linked dominantAdult
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)10
HP:0000726Dementia
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001310Dysmetria
HP:0002066Gait ataxia
HP:0002080Intention tremor
HP:0002120Cerebral cortical atrophy
HP:0002354Memory impairment
HP:0030216Inertia
Частый (30–79%)18
HP:0000713Agitation
HP:0000716Depression
HP:0000722Compulsive behaviors
HP:0000737Irritability
HP:0000739Anxiety
HP:0000802Impotence
HP:0001265Hyporeflexia
HP:0001324Muscle weakness
HP:0002063Rigidity
HP:0002172Postural instability
HP:0002839Urinary bladder sphincter dysfunction
HP:0007340Lower limb muscle weakness
HP:0009830Peripheral neuropathy
HP:0012083Ubiquitin-positive cerebral inclusion bodies
HP:0012332Abnormal autonomic nervous system physiology
HP:0012534Dysesthesia
HP:0100275Diffuse cerebellar atrophy
HP:0100515Pollakisuria
Периодический (5–29%)9
HP:0000821Hypothyroidism
HP:0000822Hypertension
HP:0001300Parkinsonism
HP:0002015Dysphagia
HP:0002067Bradykinesia
HP:0002363Abnormal brainstem morphology
HP:0002607Bowel incontinence
HP:0002615Hypotension
HP:0003326Myalgia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | United States | Class only |
| Lifetime Prevalence | 1-9 / 100 000 | 6.3 | United States | Value and class |
| 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)