Charcot-Marie-Tooth disease type 2B1
ORPHA:98856DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)9
HP:0002936Distal sensory impairment
HP:0003380Decreased number of peripheral myelinated nerve fibers
HP:0003390Sensory axonal neuropathy
HP:0003447Axonal loss
HP:0003482EMG: axonal abnormality
HP:0007002Motor axonal neuropathy
HP:0007078Decreased amplitude of sensory action potentials
HP:0009053Distal lower limb muscle weakness
HP:0040078Axonal degeneration
Частый (30–79%)17
HP:0001284Areflexia
HP:0001760Abnormal foot morphology
HP:0001761Pes cavus
HP:0001765Hammertoe
HP:0002460Distal muscle weakness
HP:0003376Steppage gait
HP:0003387Decreased number of large peripheral myelinated nerve fibers
HP:0003693Distal amyotrophy
HP:0003701Proximal muscle weakness
HP:0007149Distal upper limb amyotrophy
HP:0008956Proximal lower limb amyotrophy
HP:0008959Distal upper limb muscle weakness
HP:0008994Proximal muscle weakness in lower limbs
HP:0009049Peroneal muscle atrophy
HP:0009130Hand muscle atrophy
HP:0011916Toe extensor amyotrophy
HP:0030237Hand muscle weakness
Периодический (5–29%)5
HP:0002540Inability to walk
HP:0003724Shoulder girdle muscle atrophy
HP:0007126Proximal amyotrophy
HP:0007249Decreased number of small peripheral myelinated nerve fibers
HP:0008988Pelvic girdle muscle atrophy
Очень редкий (1–4%)1
HP:0003431Decreased motor nerve conduction velocity
Исключён (0%)1
HP:0007233Clusters of axonal regeneration
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)