Spastic paraplegia type 7
ORPHA:99013DiseaseAutosomal dominant, Autosomal recessiveAdolescent, Adult, Childhood, Elderly
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)1
HP:0002064Spastic gait
Частый (30–79%)18
HP:0000012Urinary urgency
HP:0000605Supranuclear gaze palsy
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001272Cerebellar atrophy
HP:0001611Hypernasal speech
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002395Lower limb hyperreflexia
HP:0003200Ragged-red muscle fibers
HP:0003474Somatic sensory dysfunction
HP:0003487Babinski sign
HP:0006895Lower limb hypertonia
HP:0007018Attention deficit hyperactivity disorder
HP:0007164Slowed slurred speech
HP:0007256Abnormal pyramidal sign
HP:0007340Lower limb muscle weakness
HP:0008322Abnormal mitochondrial morphology
HP:0011446Abnormality of higher mental function
Периодический (5–29%)7
HP:0000543Optic disc pallor
HP:0001260Dysarthria
HP:0001761Pes cavus
HP:0002120Cerebral cortical atrophy
HP:0002500Abnormal cerebral white matter morphology
HP:0002650Scoliosis
HP:0003484Upper limb muscle weakness
Очень редкий (1–4%)4
HP:0001328Specific learning disability
HP:0002015Dysphagia
HP:0002354Memory impairment
HP:0012514Lower limb pain
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)