Charcot-Marie-Tooth disease type 1A
ORPHA:101081DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)20
Частый (30–79%)11
HP:0001265Hyporeflexia
HP:0001288Gait disturbance
HP:0001761Pes cavus
HP:0002460Distal muscle weakness
HP:0002936Distal sensory impairment
HP:0003202Skeletal muscle atrophy
HP:0003431Decreased motor nerve conduction velocity
HP:0003448Decreased sensory nerve conduction velocity
HP:0003701Proximal muscle weakness
HP:0007108Demyelinating peripheral neuropathy
HP:0010871Sensory ataxia
Периодический (5–29%)8
HP:0002141Gait imbalance
HP:0002751Kyphoscoliosis
HP:0003401Paresthesia
HP:0007131Acute demyelinating polyneuropathy
HP:0008981Calf muscle hypertrophy
HP:0009113Diaphragmatic weakness
HP:0010833Spontaneous pain sensation
HP:0030834Shoulder pain
Очень редкий (1–4%)1
HP:0006801Hyperactive deep tendon reflexes
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 6-9 / 10 000 | 82.37 | Norway | Value and class |
| Point prevalence | 1-5 / 10 000 | 15.2 | United Kingdom | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)