Sandhoff disease, juvenile form
ORPHA:309162Clinical subtypeAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)26
Облигатный (100%)1
HP:0033978Reduced beta-hexosaminidase activity
Очень частый (80–99%)1
HP:0001251Ataxia
Частый (30–79%)9
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001508Failure to thrive
HP:0002311Incoordination
HP:0003202Skeletal muscle atrophy
HP:0003701Proximal muscle weakness
HP:0007256Abnormal pyramidal sign
HP:0100543Cognitive impairment
Периодический (5–29%)12
HP:0000020Urinary incontinence
HP:0001250Seizure
HP:0002014Diarrhea
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002059Cerebral atrophy
HP:0002071Abnormality of extrapyramidal motor function
HP:0002380Fasciculations
HP:0002460Distal muscle weakness
HP:0003121Limb joint contracture
HP:0031006Acroparesthesia
HP:0100785Insomnia
Очень редкий (1–4%)3
HP:0000729Autistic behavior
HP:0001761Pes cavus
HP:0100786Hypersomnia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)