Charcot-Marie-Tooth disease type 4C
ORPHA:99949DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)8
HP:0001288Gait disturbance
HP:0001760Abnormal foot morphology
HP:0003380Decreased number of peripheral myelinated nerve fibers
HP:0003431Decreased motor nerve conduction velocity
HP:0003444EMG: chronic denervation signs
HP:0004302Functional motor deficit
HP:0007108Demyelinating peripheral neuropathy
HP:0007141Sensorimotor neuropathy
Частый (30–79%)14
HP:0001284Areflexia
HP:0001308Tongue fasciculations
HP:0001761Pes cavus
HP:0001765Hammertoe
HP:0002066Gait ataxia
HP:0002359Frequent falls
HP:0002460Distal muscle weakness
HP:0002650Scoliosis
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0003693Distal amyotrophy
HP:0006886Impaired distal vibration sensation
HP:0008443Spinal deformities
HP:0009027Foot dorsiflexor weakness
Периодический (5–29%)25
HP:0000183Tongue muscle weakness
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000587Abnormal optic nerve morphology
HP:0000639Nystagmus
HP:0000651Diplopia
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001385Hip dysplasia
HP:0001508Failure to thrive
HP:0001604Vocal cord paresis
HP:0001763Pes planus
HP:0002093Respiratory insufficiency
HP:0002307Drooling
HP:0002346Head tremor
HP:0002403Positive Romberg sign
HP:0002540Inability to walk
HP:0002791Hypoventilation
HP:0007209Facial paralysis
HP:0007328Impaired pain sensation
HP:0007695Abnormal pupillary light reflex
HP:0009916Anisocoria
HP:0010871Sensory ataxia
HP:0012473Tongue atrophy
HP:0030319Weakness of facial musculature
Очень редкий (1–4%)4
HP:0000648Optic atrophy
HP:0007994Peripheral visual field loss
HP:0008081Pes valgus
HP:0100661Trigeminal neuralgia
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)