Multiminicore myopathy
ORPHA:598DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)3
HP:0003198Myopathy
HP:0003789Minicore myopathy
HP:0003560Muscular dystrophy
Частый (30–79%)14
HP:0001382Joint hypermobility
HP:0000486Strabismus
HP:0001290Generalized hypotonia
HP:0001387Joint stiffness
HP:0001508Failure to thrive
HP:0002093Respiratory insufficiency
HP:0002650Scoliosis
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003306Spinal rigidity
HP:0003457EMG abnormality
HP:0004303Abnormal muscle fiber morphology
HP:0004322Short stature
HP:0008994Proximal muscle weakness in lower limbs
HP:0008997Proximal muscle weakness in upper limbs
Периодический (5–29%)4
HP:0000544External ophthalmoplegia
HP:0002047Malignant hyperthermia
HP:0002460Distal muscle weakness
HP:0002804Arthrogryposis multiplex congenita
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)