Autosomal dominant spastic paraplegia type 10
ORPHA:100991DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)28
Облигатный (100%)1
HP:0002061Lower limb spasticity
Очень частый (80–99%)2
HP:0002395Lower limb hyperreflexia
HP:0008944Distal lower limb amyotrophy
Частый (30–79%)12
HP:0003487Babinski sign
HP:0000510Rod-cone dystrophy
HP:0002936Distal sensory impairment
HP:0003477Peripheral axonal neuropathy
HP:0031958Spastic paraparetic gait
HP:0002493Upper motor neuron dysfunction
HP:0006886Impaired distal vibration sensation
HP:0007350Hyperreflexia in upper limbs
HP:0000012Urinary urgency
HP:0008969Leg muscle stiffness
HP:0007340Lower limb muscle weakness
HP:0005340Spastic/hyperactive bladder
Периодический (5–29%)7
HP:0001761Pes cavus
HP:0007141Sensorimotor neuropathy
HP:0009129Upper limb amyotrophy
HP:0002342Intellectual disability, moderate
HP:0003401Paresthesia
HP:0002619Varicose veins
HP:0005679Dupuytren contracture
Очень редкий (1–4%)6
HP:0001300Parkinsonism
HP:0000365Hearing impairment
HP:0100543Cognitive impairment
HP:0011448Ankle clonus
HP:0006986Upper limb spasticity
HP:0002650Scoliosis
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)