Autosomal dominant spastic paraplegia type 9A
ORPHA:447753DiseaseAutosomal dominantAdolescent, Adult, Infancy
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)3
HP:0002064Spastic gait
HP:0002395Lower limb hyperreflexia
HP:0007350Hyperreflexia in upper limbs
Частый (30–79%)5
HP:0001761Pes cavus
HP:0003487Babinski sign
HP:0006895Lower limb hypertonia
HP:0007256Abnormal pyramidal sign
HP:0010832Abnormality of pain sensation
Периодический (5–29%)26
HP:0100515Pollakisuria
HP:0000012Urinary urgency
HP:0000020Urinary incontinence
HP:0000407Sensorineural hearing impairment
HP:0000519Developmental cataract
HP:0000666Horizontal nystagmus
HP:0000709Psychosis
HP:0000726Dementia
HP:0001250Seizure
HP:0001317Abnormal cerebellum morphology
HP:0001324Muscle weakness
HP:0001337Tremor
HP:0001653Mitral regurgitation
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002172Postural instability
HP:0002280Enlarged cisterna magna
HP:0002354Memory impairment
HP:0002425Anarthria
HP:0002464Spastic dysarthria
HP:0002500Abnormal cerebral white matter morphology
HP:0002527Falls
HP:0003394Muscle spasm
HP:0003419Low back pain
HP:0007371Corpus callosum atrophy
HP:0011397Abnormality of the dorsal column of the spinal cord
HP:0012514Lower limb pain
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)