Recessive mitochondrial ataxia syndrome
ORPHA:94125DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)21
HP:0000602Ophthalmoplegia
HP:0000708Atypical behavior
HP:0000872Hashimoto thyroiditis
HP:0001250Seizure
HP:0001251Ataxia
HP:0001284Areflexia
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0002015Dysphagia
HP:0002315Headache
HP:0002403Positive Romberg sign
HP:0002406Limb dysmetria
HP:0002495Impaired vibratory sensation
HP:0003390Sensory axonal neuropathy
HP:0003542Increased serum pyruvate
HP:0009830Peripheral neuropathy
HP:0012079Abnormality of central motor conduction
HP:0012251ST segment elevation
HP:0100022Abnormality of movement
HP:0100543Cognitive impairment
Периодический (5–29%)1
HP:0001260Dysarthria
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)