GNE myopathy
ORPHA:602DiseaseAutosomal dominant, Autosomal recessiveAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)7
HP:0003805Rimmed vacuoles
HP:0007340Lower limb muscle weakness
HP:0008180Mildly elevated creatine kinase
HP:0008963Tibialis muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0012548Fatty replacement of skeletal muscle
HP:0100299Muscle fiber inclusion bodies
Частый (30–79%)11
HP:0000821Hypothyroidism
HP:0003376Steppage gait
HP:0003438Absent Achilles reflex
HP:0003458EMG: myopathic abnormalities
HP:0003547Shoulder girdle muscle weakness
HP:0003557Increased variability in muscle fiber diameter
HP:0006251Limited wrist extension
HP:0006467Limited shoulder movement
HP:0012515Hip flexor weakness
HP:0030007EMG: positive sharp waves
HP:0100284EMG: myotonic discharges
Периодический (5–29%)7
HP:0001324Muscle weakness
HP:0001436Abnormality of the foot musculature
HP:0003691Scapular winging
HP:0003724Shoulder girdle muscle atrophy
HP:0007210Lower limb amyotrophy
HP:0010628Facial palsy
HP:0040047Abnormality of the right hemidiaphragm
Очень редкий (1–4%)2
HP:0001638Cardiomyopathy
HP:0009077Weakness of long finger extensor muscles
Исключён (0%)1
HP:0003731Quadriceps muscle weakness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Point prevalence | 6-9 / 10 000 | 66.7 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)