Hereditary neuropathy with liability to pressure palsies
ORPHA:640Malformation syndromeAutosomal dominantAdolescent, Adult, Childhood, Elderly, Infancy
Ассоциированные гены2
Фенотипы (HPO)18
Очень частый (80–99%)2
HP:0003431Decreased motor nerve conduction velocity
HP:0009830Peripheral neuropathy
Частый (30–79%)5
HP:0001324Muscle weakness
HP:0002650Scoliosis
HP:0003401Paresthesia
HP:0007141Sensorimotor neuropathy
HP:0200101Decreased/absent ankle reflexes
Периодический (5–29%)11
HP:0000407Sensorineural hearing impairment
HP:0001265Hyporeflexia
HP:0001605Vocal cord paralysis
HP:0001608Abnormality of the voice
HP:0001761Pes cavus
HP:0002093Respiratory insufficiency
HP:0003394Muscle spasm
HP:0003693Distal amyotrophy
HP:0003704Scapuloperoneal weakness
HP:0003738Exercise-induced myalgia
HP:0006824Cranial nerve paralysis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.5 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 16 | Finland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)