Sandhoff disease, adult form
ORPHA:309169Clinical subtypeAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)19
Облигатный (100%)1
HP:0033978Reduced beta-hexosaminidase activity
Частый (30–79%)9
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001268Mental deterioration
HP:0001337Tremor
HP:0002015Dysphagia
HP:0002066Gait ataxia
HP:0003390Sensory axonal neuropathy
HP:0003484Upper limb muscle weakness
HP:0008994Proximal muscle weakness in lower limbs
Периодический (5–29%)9
HP:0000739Anxiety
HP:0001315Reduced tendon reflexes
HP:0001332Dystonia
HP:0002380Fasciculations
HP:0003236Elevated circulating creatine kinase concentration
HP:0003394Muscle spasm
HP:0004373Focal dystonia
HP:0025268Stuttering
HP:0100295Muscle fiber atrophy
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)