Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
ORPHA:313772DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)24
Частый (30–79%)24
HP:0000508Ptosis
HP:0000657Oculomotor apraxia
HP:0001251Ataxia
HP:0001256Intellectual disability, mild
HP:0001257Spasticity
HP:0001272Cerebellar atrophy
HP:0001310Dysmetria
HP:0001321Cerebellar hypoplasia
HP:0001332Dystonia
HP:0001336Myoclonus
HP:0002015Dysphagia
HP:0002069Bilateral tonic-clonic seizure
HP:0002075Dysdiadochokinesis
HP:0002123Generalized myoclonic seizure
HP:0002313Spastic paraparesis
HP:0002353EEG abnormality
HP:0002460Distal muscle weakness
HP:0002464Spastic dysarthria
HP:0003477Peripheral axonal neuropathy
HP:0003693Distal amyotrophy
HP:0007108Demyelinating peripheral neuropathy
HP:0007141Sensorimotor neuropathy
HP:0007340Lower limb muscle weakness
HP:0008316Abnormal mitochondria in muscle tissue
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Case(s) |
| 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)