Charcot-Marie-Tooth disease type 4B2
ORPHA:99956DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)9
HP:0001288Gait disturbance
HP:0001760Abnormal foot morphology
HP:0002522Areflexia of lower limbs
HP:0004336Myelin outfoldings
HP:0007010Poor fine motor coordination
HP:0007230Decreased distal sensory nerve action potential
HP:0007340Lower limb muscle weakness
HP:0008959Distal upper limb muscle weakness
HP:0009053Distal lower limb muscle weakness
Частый (30–79%)9
HP:0000501Glaucoma
HP:0001605Vocal cord paralysis
HP:0001618Dysphonia
HP:0001761Pes cavus
HP:0002650Scoliosis
HP:0002751Kyphoscoliosis
HP:0002936Distal sensory impairment
HP:0008994Proximal muscle weakness in lower limbs
HP:0012046Areflexia of upper limbs
Периодический (5–29%)22
HP:0000183Tongue muscle weakness
HP:0000407Sensorineural hearing impairment
HP:0000508Ptosis
HP:0000518Cataract
HP:0000557Buphthalmos
HP:0000648Optic atrophy
HP:0000729Autistic behavior
HP:0001026Penetrating foot ulcers
HP:0001087Developmental glaucoma
HP:0001270Motor delay
HP:0001328Specific learning disability
HP:0001337Tremor
HP:0001763Pes planus
HP:0002093Respiratory insufficiency
HP:0002540Inability to walk
HP:0002792Reduced vital capacity
HP:0003401Paresthesia
HP:0008997Proximal muscle weakness in upper limbs
HP:0012473Tongue atrophy
HP:0030051Tip-toe gait
HP:0030237Hand muscle weakness
HP:0030319Weakness of facial musculature
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)