Autosomal dominant Charcot-Marie-Tooth disease type 2A2
ORPHA:99947DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)6
HP:0001760Abnormal foot morphology
HP:0003390Sensory axonal neuropathy
HP:0003438Absent Achilles reflex
HP:0003444EMG: chronic denervation signs
HP:0003474Somatic sensory dysfunction
HP:0009027Foot dorsiflexor weakness
Частый (30–79%)18
HP:0001155Abnormality of the hand
HP:0001761Pes cavus
HP:0002359Frequent falls
HP:0002378Hand tremor
HP:0002495Impaired vibratory sensation
HP:0002522Areflexia of lower limbs
HP:0002601Paresis of extensor muscles of the big toe
HP:0002936Distal sensory impairment
HP:0003394Muscle spasm
HP:0003551Difficulty climbing stairs
HP:0006460Increased laxity of ankles
HP:0007010Poor fine motor coordination
HP:0007328Impaired pain sensation
HP:0009046Difficulty running
HP:0009053Distal lower limb muscle weakness
HP:0010829Impaired temperature sensition
HP:0025238Foot pain
HP:0030237Hand muscle weakness
Периодический (5–29%)16
HP:0001371Flexion contracture
HP:0001605Vocal cord paralysis
HP:0001609Hoarse voice
HP:0001618Dysphonia
HP:0002143Abnormality of the spinal cord
HP:0002174Postural tremor
HP:0003376Steppage gait
HP:0003401Paresthesia
HP:0003487Babinski sign
HP:0003731Quadriceps muscle weakness
HP:0006844Absent patellar reflexes
HP:0006915Inability to walk by childhood/adolescence
HP:0008944Distal lower limb amyotrophy
HP:0012452Restless legs
HP:0012513Upper limb pain
HP:0031108Triceps weakness
Очень редкий (1–4%)5
HP:0000238Hydrocephalus
HP:0000407Sensorineural hearing impairment
HP:0000648Optic atrophy
HP:0000662Nyctalopia
HP:0002650Scoliosis
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)