Charcot-Marie-Tooth disease type 4G
ORPHA:99953DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)12
HP:0001284Areflexia
HP:0001760Abnormal foot morphology
HP:0002495Impaired vibratory sensation
HP:0002936Distal sensory impairment
HP:0003409Distal sensory impairment of all modalities
HP:0003431Decreased motor nerve conduction velocity
HP:0003477Peripheral axonal neuropathy
HP:0007108Demyelinating peripheral neuropathy
HP:0007230Decreased distal sensory nerve action potential
HP:0009053Distal lower limb muscle weakness
HP:0011096Peripheral demyelination
HP:0012078Motor conduction block
Частый (30–79%)10
HP:0001288Gait disturbance
HP:0010830Impaired tactile sensation
HP:0001155Abnormality of the hand
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0003693Distal amyotrophy
HP:0003701Proximal muscle weakness
HP:0007210Lower limb amyotrophy
HP:0008959Distal upper limb muscle weakness
HP:0009129Upper limb amyotrophy
Периодический (5–29%)5
HP:0002141Gait imbalance
HP:0002505Loss of ambulation
HP:0002650Scoliosis
HP:0007328Impaired pain sensation
HP:0008081Pes valgus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-5 / 10 000 | 10 | Czech Republic | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)