Giant axonal neuropathy
ORPHA:643DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)9
HP:0001284Areflexia
HP:0001290Generalized hypotonia
HP:0001382Joint hypermobility
HP:0002235Pili canaliculi
HP:0003405Diffuse axonal swelling
HP:0003429CNS hypomyelination
HP:0003701Proximal muscle weakness
HP:0005109Abnormality of the Achilles tendon
HP:0001288Gait disturbance
Частый (30–79%)12
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001317Abnormal cerebellum morphology
HP:0001761Pes cavus
HP:0001762Talipes equinovarus
HP:0002224Woolly hair
HP:0002317Unsteady gait
HP:0002460Distal muscle weakness
HP:0002650Scoliosis
HP:0002936Distal sensory impairment
HP:0005922Abnormal hand morphology
HP:0010628Facial palsy
Периодический (5–29%)5
HP:0002527Falls
HP:0002857Genu valgum
HP:0003487Babinski sign
HP:0003690Limb muscle weakness
HP:0012503Abnormality of the pituitary gland
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Family(ies) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)