X-linked Charcot-Marie-Tooth disease type 2
ORPHA:101076DiseaseX-linked recessiveChildhood, Infancy
Фенотипы (HPO)26
Частый (30–79%)15
HP:0001284Areflexia
HP:0001288Gait disturbance
HP:0001761Pes cavus
HP:0002378Hand tremor
HP:0002936Distal sensory impairment
HP:0003376Steppage gait
HP:0003431Decreased motor nerve conduction velocity
HP:0003444EMG: chronic denervation signs
HP:0008944Distal lower limb amyotrophy
HP:0008954Intrinsic hand muscle atrophy
HP:0009027Foot dorsiflexor weakness
HP:0009053Distal lower limb muscle weakness
HP:0011399Tibialis atrophy
HP:0011727Peroneal muscle weakness
HP:0030237Hand muscle weakness
Периодический (5–29%)11
HP:0000407Sensorineural hearing impairment
HP:0000543Optic disc pallor
HP:0001138Optic neuropathy
HP:0001249Intellectual disability
HP:0001265Hyporeflexia
HP:0001347Hyperreflexia
HP:0002313Spastic paraparesis
HP:0003487Babinski sign
HP:0006801Hyperactive deep tendon reflexes
HP:0007924Slow decrease in visual acuity
HP:0031866Clasp-knife sign
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)