GMPPB-related limb-girdle muscular dystrophy R19
ORPHA:363623DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)25
Частый (30–79%)6
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0003236Elevated circulating creatine kinase concentration
HP:0003551Difficulty climbing stairs
HP:0001249Intellectual disability
HP:0001250Seizure
Периодический (5–29%)19
HP:0000252Microcephaly
HP:0000467Neck muscle weakness
HP:0000518Cataract
HP:0000639Nystagmus
HP:0001324Muscle weakness
HP:0001638Cardiomyopathy
HP:0002093Respiratory insufficiency
HP:0003327Axial muscle weakness
HP:0003388Easy fatigability
HP:0003394Muscle spasm
HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003546Exercise intolerance
HP:0006698Dilatation of the ventricular cavity
HP:0007340Lower limb muscle weakness
HP:0008959Distal upper limb muscle weakness
HP:0008997Proximal muscle weakness in upper limbs
HP:0009053Distal lower limb muscle weakness
HP:0030192Fatigable weakness of bulbar muscles
HP:0100543Cognitive impairment
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)