Spastic paraplegia-optic atrophy-neuropathy syndrome
ORPHA:320406DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены2
Фенотипы (HPO)20
Очень частый (80–99%)3
HP:0000648Optic atrophy
HP:0002828Multiple joint contractures
HP:0003693Distal amyotrophy
Частый (30–79%)15
HP:0000543Optic disc pallor
HP:0000975Hyperhidrosis
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001761Pes cavus
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002194Delayed gross motor development
HP:0002267Exaggerated startle response
HP:0002600Hyporeflexia of lower limbs
HP:0002650Scoliosis
HP:0003380Decreased number of peripheral myelinated nerve fibers
HP:0003477Peripheral axonal neuropathy
HP:0007020Progressive spastic paraplegia
HP:0007054Hyperreflexia proximally
HP:0008944Distal lower limb amyotrophy
Периодический (5–29%)2
HP:0000639Nystagmus
HP:0002071Abnormality of extrapyramidal motor function
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 75 | 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)