Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
ORPHA:506353DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)22
Облигатный (100%)10
HP:0007020Progressive spastic paraplegia
HP:0000252Microcephaly
HP:0008848Moderately short stature
HP:0008376Nasal, dysarthic speech
HP:0002194Delayed gross motor development
HP:0002191Progressive spasticity
HP:0002395Lower limb hyperreflexia
HP:0011448Ankle clonus
HP:0007814Retinal pigment epithelial mottling
HP:0007199Progressive spastic paraparesis
Частый (30–79%)9
HP:0001256Intellectual disability, mild
HP:0003487Babinski sign
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0030625Hyporeflective spaces on macular OCT
HP:0007220Demyelinating motor neuropathy
HP:0001250Seizure
HP:0007768Central retinal vessel vascular tortuosity
HP:0007663Reduced visual acuity
Периодический (5–29%)3
HP:0004302Functional motor deficit
HP:0030182Tetraplegia/tetraparesis
HP:0002493Upper motor neuron dysfunction
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)