Autosomal recessive spastic paraplegia type 11
ORPHA:2822DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)10
HP:0001256Intellectual disability, mild
HP:0001268Mental deterioration
HP:0001328Specific learning disability
HP:0002079Hypoplasia of the corpus callosum
HP:0002191Progressive spasticity
HP:0002385Paraparesis
HP:0003477Peripheral axonal neuropathy
HP:0007141Sensorimotor neuropathy
HP:0007178Motor polyneuropathy
HP:0007340Lower limb muscle weakness
Частый (30–79%)19
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0000712Emotional lability
HP:0000736Short attention span
HP:0001152Saccadic smooth pursuit
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0002015Dysphagia
HP:0002120Cerebral cortical atrophy
HP:0002354Memory impairment
HP:0002540Inability to walk
HP:0003445EMG: neuropathic changes
HP:0003482EMG: axonal abnormality
HP:0006913Frontal cortical atrophy
HP:0006956Dilation of lateral ventricles
HP:0007350Hyperreflexia in upper limbs
HP:0030455Abnormality of pattern visual evoked potentials
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)20
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000546Retinal degeneration
HP:0000709Psychosis
HP:0000726Dementia
HP:0001004Lymphedema
HP:0001250Seizure
HP:0001278Orthostatic hypotension
HP:0001300Parkinsonism
HP:0001513Obesity
HP:0001761Pes cavus
HP:0002071Abnormality of extrapyramidal motor function
HP:0002650Scoliosis
HP:0003693Distal amyotrophy
HP:0006827Atrophy of the spinal cord
HP:0007183Focal T2 hyperintense basal ganglia lesion
HP:0009055Generalized limb muscle atrophy
HP:0025058Hypothalamic atrophy
HP:0025502Overweight
HP:0045007Abnormality of the substantia nigra
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.26 | Portugal | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)