Alpha-B crystallin-related late-onset myopathy
ORPHA:399058DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)3
HP:0001618Dysphonia
HP:0002015Dysphagia
HP:0009063Progressive distal muscle weakness
Частый (30–79%)12
HP:0000467Neck muscle weakness
HP:0001265Hyporeflexia
HP:0003325Limb-girdle muscle weakness
HP:0003327Axial muscle weakness
HP:0003458EMG: myopathic abnormalities
HP:0003557Increased variability in muscle fiber diameter
HP:0003736Autophagic vacuoles
HP:0009027Foot dorsiflexor weakness
HP:0030225Accumulation of muscle fiber desmin
HP:0040081Abnormal circulating creatine kinase concentration
HP:0100020Posterior capsular cataract
HP:0100299Muscle fiber inclusion bodies
Периодический (5–29%)6
HP:0001288Gait disturbance
HP:0001349Facial diplegia
HP:0001638Cardiomyopathy
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003552Muscle stiffness
HP:0009073Progressive proximal muscle weakness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)