Autosomal recessive spastic paraplegia type 9B
ORPHA:447760DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)4
HP:0001257Spasticity
HP:0002395Lower limb hyperreflexia
HP:0003487Babinski sign
HP:0007350Hyperreflexia in upper limbs
Частый (30–79%)8
HP:0001260Dysarthria
HP:0001270Motor delay
HP:0001324Muscle weakness
HP:0001510Growth delay
HP:0002064Spastic gait
HP:0002174Postural tremor
HP:0002445Tetraplegia
HP:0031064Impaired continence
Периодический (5–29%)17
HP:0000016Urinary retention
HP:0000252Microcephaly
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0002120Cerebral cortical atrophy
HP:0002371Loss of speech
HP:0002476Primitive reflex
HP:0002518Abnormal periventricular white matter morphology
HP:0002751Kyphoscoliosis
HP:0003202Skeletal muscle atrophy
HP:0003438Absent Achilles reflex
HP:0004322Short stature
HP:0006938Impaired vibration sensation at ankles
HP:0007371Corpus callosum atrophy
HP:0030051Tip-toe gait
HP:0100515Pollakisuria
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)