Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
ORPHA:496689DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)15
HP:0001762Talipes equinovarus
HP:0002061Lower limb spasticity
HP:0002194Delayed gross motor development
HP:0002395Lower limb hyperreflexia
HP:0002751Kyphoscoliosis
HP:0003394Muscle spasm
HP:0003698Difficulty standing
HP:0007020Progressive spastic paraplegia
HP:0007210Lower limb amyotrophy
HP:0008997Proximal muscle weakness in upper limbs
HP:0009046Difficulty running
HP:0009129Upper limb amyotrophy
HP:0012473Tongue atrophy
HP:0012531Pain
HP:0030051Tip-toe gait
Периодический (5–29%)4
HP:0001249Intellectual disability
HP:0002015Dysphagia
HP:0003487Babinski sign
HP:0006380Knee flexion contracture
Исключён (0%)3
HP:0001272Cerebellar atrophy
HP:0002059Cerebral atrophy
HP:0040081Abnormal circulating creatine kinase concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 12 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)