Autosomal recessive spastic paraplegia type 26
ORPHA:101006DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)10
HP:0001249Intellectual disability
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0001347Hyperreflexia
HP:0002061Lower limb spasticity
HP:0002120Cerebral cortical atrophy
HP:0003202Skeletal muscle atrophy
HP:0003487Babinski sign
HP:0007141Sensorimotor neuropathy
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)9
HP:0000079Abnormality of the urinary system
HP:0000518Cataract
HP:0001317Abnormal cerebellum morphology
HP:0001332Dystonia
HP:0001761Pes cavus
HP:0002650Scoliosis
HP:0006938Impaired vibration sensation at ankles
HP:0007024Pseudobulbar paralysis
HP:0100660Dyskinesia
Очень редкий (1–4%)3
HP:0001265Hyporeflexia
HP:0008209Premature ovarian insufficiency
HP:0040171Decreased serum testosterone concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | Worldwide | Family(ies) |
| 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)