Autosomal dominant Charcot-Marie-Tooth disease type 2E
ORPHA:99939DiseaseAutosomal dominantAdolescent, Adult, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)8
HP:0001288Gait disturbance
HP:0001760Abnormal foot morphology
HP:0003477Peripheral axonal neuropathy
HP:0003484Upper limb muscle weakness
HP:0007141Sensorimotor neuropathy
HP:0007220Demyelinating motor neuropathy
HP:0007340Lower limb muscle weakness
HP:0011402Demyelinating sensory neuropathy
Частый (30–79%)12
HP:0001265Hyporeflexia
HP:0001761Pes cavus
HP:0001884Talipes calcaneovalgus
HP:0002460Distal muscle weakness
HP:0003458EMG: myopathic abnormalities
HP:0003474Somatic sensory dysfunction
HP:0003693Distal amyotrophy
HP:0003701Proximal muscle weakness
HP:0009046Difficulty running
HP:0012896Abnormal motor evoked potentials
HP:0030235Extremely elevated creatine kinase
HP:0200101Decreased/absent ankle reflexes
Периодический (5–29%)3
HP:0001270Motor delay
HP:0002540Inability to walk
HP:0003376Steppage gait
Очень редкий (1–4%)1
HP:0000762Decreased nerve conduction velocity
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)