Charcot-Marie-Tooth disease type 4A
ORPHA:99948DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)9
HP:0000762Decreased nerve conduction velocity
HP:0001760Abnormal foot morphology
HP:0001761Pes cavus
HP:0002460Distal muscle weakness
HP:0002936Distal sensory impairment
HP:0003457EMG abnormality
HP:0003693Distal amyotrophy
HP:0007010Poor fine motor coordination
HP:0007015Poor gross motor coordination
Частый (30–79%)20
HP:0001270Motor delay
HP:0001284Areflexia
HP:0001604Vocal cord paresis
HP:0001609Hoarse voice
HP:0001765Hammertoe
HP:0001776Bilateral talipes equinovarus
HP:0002317Unsteady gait
HP:0002540Inability to walk
HP:0003387Decreased number of large peripheral myelinated nerve fibers
HP:0006064Limited interphalangeal movement
HP:0006248Limited wrist movement
HP:0006858Impaired distal proprioception
HP:0006886Impaired distal vibration sensation
HP:0006937Impaired distal tactile sensation
HP:0007267Chronic axonal neuropathy
HP:0007328Impaired pain sensation
HP:0009072Decreased Achilles reflex
HP:0009473Joint contracture of the hand
HP:0012391Hyporeflexia of upper limbs
HP:0030237Hand muscle weakness
Периодический (5–29%)10
HP:0002091Restrictive ventilatory defect
HP:0002359Frequent falls
HP:0002650Scoliosis
HP:0003547Shoulder girdle muscle weakness
HP:0003731Quadriceps muscle weakness
HP:0007108Demyelinating peripheral neuropathy
HP:0008443Spinal deformities
HP:0008935Generalized neonatal hypotonia
HP:0009109Denervation of the diaphragm
HP:0012078Motor conduction block
Очень редкий (1–4%)1
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)