Glycogen storage disease due to muscle glycogen phosphorylase deficiency
ORPHA:368DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)5
HP:0003236Elevated circulating creatine kinase concentration
HP:0003546Exercise intolerance
HP:0009051Increased muscle glycogen content
HP:0030231Glycogen accumulation in muscle fiber lysosomes
HP:0030234Highly elevated creatine kinase
Частый (30–79%)5
HP:0003201Rhabdomyolysis
HP:0003652Recurrent myoglobinuria
HP:0003710Exercise-induced muscle cramps
HP:0008305Exercise-induced myoglobinuria
HP:0040319Dark urine
Периодический (5–29%)11
HP:0001324Muscle weakness
HP:0001639Hypertrophic cardiomyopathy
HP:0001649Tachycardia
HP:0001919Acute kidney injury
HP:0002875Exertional dyspnea
HP:0003202Skeletal muscle atrophy
HP:0003738Exercise-induced myalgia
HP:0008967Exercise-induced muscle stiffness
HP:0009073Progressive proximal muscle weakness
HP:0012378Fatigue
HP:0030973Postexertional malaise
Очень редкий (1–4%)3
HP:0002015Dysphagia
HP:0005216Impaired mastication
HP:0012622Chronic kidney disease
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.035 | Spain | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)