Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
ORPHA:480864DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)7
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002151Increased circulating lactate concentration
HP:0002919Ketonuria
HP:0003115Abnormal EKG
HP:0003236Elevated circulating creatine kinase concentration
HP:0003458EMG: myopathic abnormalities
Частый (30–79%)20
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001251Ataxia
HP:0001657Prolonged QT interval
HP:0001943Hypoglycemia
HP:0001987Hyperammonemia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002283Global brain atrophy
HP:0002311Incoordination
HP:0002376Developmental regression
HP:0002579Gastrointestinal dysmotility
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003128Lactic acidosis
HP:0004305Involuntary movements
HP:0008223Compensated hypothyroidism
HP:0008872Feeding difficulties in infancy
HP:0008942Acute rhabdomyolysis
HP:0011343Moderate global developmental delay
HP:0011675Arrhythmia
HP:0031936Delayed ability to walk
Периодический (5–29%)22
HP:0002173Hypoglycemic seizures
HP:0002384Focal impaired awareness seizure
HP:0003487Babinski sign
HP:0010818Generalized tonic seizure
HP:0011342Mild global developmental delay
HP:0011344Severe global developmental delay
HP:0012469Infantile spasms
HP:0031165Multifocal seizures
HP:0045045Elevated plasma acylcarnitine levels
HP:0100704Cerebral visual impairment
HP:0000605Supranuclear gaze palsy
HP:0000639Nystagmus
HP:0000646Amblyopia
HP:0000648Optic atrophy
HP:0001276Hypertonia
HP:0001297Stroke
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002069Bilateral tonic-clonic seizure
HP:0002123Generalized myoclonic seizure
HP:0002169Clonus
Очень редкий (1–4%)2
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 24 | 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)