Autosomal recessive spastic paraplegia type 35
ORPHA:171629DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)6
HP:0001258Spastic paraplegia
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0002061Lower limb spasticity
HP:0003487Babinski sign
HP:0009027Foot dorsiflexor weakness
Частый (30–79%)16
HP:0000657Oculomotor apraxia
HP:0001249Intellectual disability
HP:0001260Dysarthria
HP:0001268Mental deterioration
HP:0001272Cerebellar atrophy
HP:0001285Spastic tetraparesis
HP:0001310Dysmetria
HP:0002075Dysdiadochokinesis
HP:0002079Hypoplasia of the corpus callosum
HP:0002359Frequent falls
HP:0006895Lower limb hypertonia
HP:0007325Generalized dystonia
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0007371Corpus callosum atrophy
HP:0011448Ankle clonus
HP:0100543Cognitive impairment
Периодический (5–29%)13
HP:0000020Urinary incontinence
HP:0000298Mask-like facies
HP:0000467Neck muscle weakness
HP:0001250Seizure
HP:0002120Cerebral cortical atrophy
HP:0002454Eye of the tiger anomaly of globus pallidus
HP:0002607Bowel incontinence
HP:0002808Kyphosis
HP:0005656Positional foot deformity
HP:0006879Pontocerebellar atrophy
HP:0010677Enuresis nocturna
HP:0011096Peripheral demyelination
HP:0100515Pollakisuria
Очень редкий (1–4%)2
HP:0000602Ophthalmoplegia
HP:0000648Optic atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 38 | 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)