Autosomal recessive spastic paraplegia type 77
ORPHA:466722DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)37
Облигатный (100%)1
HP:0007020Progressive spastic paraplegia
Частый (30–79%)11
HP:0002061Lower limb spasticity
HP:0010549Weakness due to upper motor neuron dysfunction
HP:0002395Lower limb hyperreflexia
HP:0012407Scissor gait
HP:0003487Babinski sign
HP:0007210Lower limb amyotrophy
HP:0002505Loss of ambulation
HP:0001263Global developmental delay
HP:0002080Intention tremor
HP:0001260Dysarthria
HP:0001250Seizure
Периодический (5–29%)25
HP:0003800Muscle abnormality related to mitochondrial dysfunction
HP:0000278Retrognathia
HP:0000675Macrodontia of permanent maxillary central incisor
HP:0000486Strabismus
HP:0000508Ptosis
HP:0008936Axial hypotonia
HP:0002421Poor head control
HP:0001344Absent speech
HP:0005216Impaired mastication
HP:0002068Neuromuscular dysphagia
HP:0002882Sudden episodic apnea
HP:0002751Kyphoscoliosis
HP:0008872Feeding difficulties in infancy
HP:0000020Urinary incontinence
HP:0002067Bradykinesia
HP:0001332Dystonia
HP:0008110Equinovarus deformity
HP:0001385Hip dysplasia
HP:0001336Myoclonus
HP:0008689Bilateral cryptorchidism
HP:0000011Neurogenic bladder
HP:0025488Detrusor sphincter dyssynergia
HP:0002376Developmental regression
HP:0100785Insomnia
HP:0002268Paroxysmal dystonia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)