Laing distal myopathy
ORPHA:59135DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)20
Очень частый (80–99%)2
HP:0009027Foot dorsiflexor weakness
HP:0011916Toe extensor amyotrophy
Частый (30–79%)14
HP:0000218High palate
HP:0000467Neck muscle weakness
HP:0001288Gait disturbance
HP:0001430Abnormality of the calf musculature
HP:0002460Distal muscle weakness
HP:0002650Scoliosis
HP:0003323Progressive muscle weakness
HP:0003326Myalgia
HP:0003789Minicore myopathy
HP:0003803Type 1 muscle fiber predominance
HP:0004696Talipes cavus equinovarus
HP:0008180Mildly elevated creatine kinase
HP:0008316Abnormal mitochondria in muscle tissue
HP:0012507Weakness of orbicularis oculi muscle
Периодический (5–29%)3
HP:0001644Dilated cardiomyopathy
HP:0003458EMG: myopathic abnormalities
HP:0008994Proximal muscle weakness in lower limbs
Исключён (0%)1
HP:0003805Rimmed vacuoles
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)