Autosomal spastic paraplegia type 18
ORPHA:209951DiseaseAutosomal dominant, Autosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)11
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001347Hyperreflexia
HP:0001371Flexion contracture
HP:0002460Distal muscle weakness
HP:0002540Inability to walk
HP:0002987Elbow flexion contracture
HP:0006380Knee flexion contracture
HP:0006466Ankle flexion contracture
HP:0007350Hyperreflexia in upper limbs
HP:0012453Bilateral wrist flexion contracture
Частый (30–79%)6
HP:0000154Wide mouth
HP:0000158Macroglossia
HP:0001257Spasticity
HP:0001344Absent speech
HP:0002079Hypoplasia of the corpus callosum
HP:0003487Babinski sign
Периодический (5–29%)17
HP:0000218High palate
HP:0000322Short philtrum
HP:0000377Abnormal pinna morphology
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000666Horizontal nystagmus
HP:0001250Seizure
HP:0001583Rotary nystagmus
HP:0002015Dysphagia
HP:0002166Impaired vibration sensation in the lower limbs
HP:0002378Hand tremor
HP:0003273Hip contracture
HP:0003306Spinal rigidity
HP:0005830Flexion contracture of toe
HP:0005997Restricted neck movement due to contractures
HP:0011448Ankle clonus
HP:0100712Abnormal lumbar spine morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)