Charcot-Marie-Tooth disease type 4D
ORPHA:99950DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)4
HP:0003431Decreased motor nerve conduction velocity
HP:0007078Decreased amplitude of sensory action potentials
HP:0007108Demyelinating peripheral neuropathy
HP:0009053Distal lower limb muscle weakness
Частый (30–79%)6
HP:0000407Sensorineural hearing impairment
HP:0001270Motor delay
HP:0001760Abnormal foot morphology
HP:0002317Unsteady gait
HP:0002460Distal muscle weakness
HP:0007210Lower limb amyotrophy
Периодический (5–29%)12
HP:0001171Split hand
HP:0001761Pes cavus
HP:0001765Hammertoe
HP:0002174Postural tremor
HP:0002540Inability to walk
HP:0002751Kyphoscoliosis
HP:0002936Distal sensory impairment
HP:0003474Somatic sensory dysfunction
HP:0003701Proximal muscle weakness
HP:0008959Distal upper limb muscle weakness
HP:0009129Upper limb amyotrophy
HP:0032649Skewfoot
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)