Hyperkalemic periodic paralysis
ORPHA:682DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)6
HP:0001315Reduced tendon reflexes
HP:0003236Elevated circulating creatine kinase concentration
HP:0003457EMG abnormality
HP:0003752Episodic flaccid weakness
HP:0007215Periodic hyperkalemic paralysis
HP:0100021Cerebral palsy
Частый (30–79%)5
HP:0001288Gait disturbance
HP:0002153Hyperkalemia
HP:0002380Fasciculations
HP:0002486Myotonia
HP:0003326Myalgia
Периодический (5–29%)18
HP:0000597Ophthalmoparesis
HP:0001276Hypertonia
HP:0001371Flexion contracture
HP:0001522Death in infancy
HP:0001635Congestive heart failure
HP:0002047Malignant hyperthermia
HP:0002093Respiratory insufficiency
HP:0002607Bowel incontinence
HP:0002900Hypokalemia
HP:0002902Hyponatremia
HP:0003198Myopathy
HP:0003202Skeletal muscle atrophy
HP:0003401Paresthesia
HP:0003712Skeletal muscle hypertrophy
HP:0008872Feeding difficulties in infancy
HP:0011675Arrhythmia
HP:0100613Death in early adulthood
HP:0100749Chest pain
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.17 | United Kingdom | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.06 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)