Autosomal recessive spastic paraplegia type 46
ORPHA:320391DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)5
HP:0000518Cataract
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0002061Lower limb spasticity
HP:0003487Babinski sign
Частый (30–79%)6
HP:0001272Cerebellar atrophy
HP:0002059Cerebral atrophy
HP:0002120Cerebral cortical atrophy
HP:0002500Abnormal cerebral white matter morphology
HP:0007371Corpus callosum atrophy
HP:0100543Cognitive impairment
Периодический (5–29%)22
HP:0000020Urinary incontinence
HP:0000365Hearing impairment
HP:0000639Nystagmus
HP:0000726Dementia
HP:0000789Infertility
HP:0001347Hyperreflexia
HP:0001761Pes cavus
HP:0002078Truncal ataxia
HP:0002136Broad-based gait
HP:0002346Head tremor
HP:0002464Spastic dysarthria
HP:0002650Scoliosis
HP:0003477Peripheral axonal neuropathy
HP:0006938Impaired vibration sensation at ankles
HP:0006986Upper limb spasticity
HP:0007256Abnormal pyramidal sign
HP:0008003Jerky ocular pursuit movements
HP:0008734Decreased testicular size
HP:0012207Reduced sperm motility
HP:0012864Abnormal sperm morphology
HP:0012865Sperm head anomaly
HP:0100261Abnormal tendon morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)