Autosomal recessive spastic paraplegia type 55
ORPHA:320375DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)27
Частый (30–79%)22
HP:0000648Optic atrophy
HP:0001138Optic neuropathy
HP:0001256Intellectual disability, mild
HP:0001257Spasticity
HP:0001347Hyperreflexia
HP:0001762Talipes equinovarus
HP:0002061Lower limb spasticity
HP:0002079Hypoplasia of the corpus callosum
HP:0002313Spastic paraparesis
HP:0002936Distal sensory impairment
HP:0003202Skeletal muscle atrophy
HP:0003383Onion bulb formation
HP:0003448Decreased sensory nerve conduction velocity
HP:0003484Upper limb muscle weakness
HP:0003487Babinski sign
HP:0007010Poor fine motor coordination
HP:0007042Focal white matter lesions
HP:0007340Lower limb muscle weakness
HP:0007663Reduced visual acuity
HP:0008963Tibialis muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0009830Peripheral neuropathy
Периодический (5–29%)5
HP:0000486Strabismus
HP:0000602Ophthalmoplegia
HP:0001999Abnormal facial shape
HP:0002804Arthrogryposis multiplex congenita
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 14 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)