Proximal myotonic myopathy
ORPHA:606DiseaseAutosomal dominantAdolescent, Adult, Elderly
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)6
HP:0000518Cataract
HP:0002486Myotonia
HP:0003202Skeletal muscle atrophy
HP:0003326Myalgia
HP:0003327Axial muscle weakness
HP:0003701Proximal muscle weakness
Частый (30–79%)9
HP:0000407Sensorineural hearing impairment
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002027Abdominal pain
HP:0003552Muscle stiffness
HP:0004313Decreased circulating antibody level
HP:0005978Type II diabetes mellitus
HP:0007787Posterior subcapsular cataract
HP:0008189Insulin insensitivity
Периодический (5–29%)15
HP:0000026Male hypogonadism
HP:0000975Hyperhidrosis
HP:0001262Excessive daytime somnolence
HP:0001348Brisk reflexes
HP:0001638Cardiomyopathy
HP:0002360Sleep abnormality
HP:0002870Obstructive sleep apnea
HP:0002926Abnormality of thyroid physiology
HP:0003077Hyperlipidemia
HP:0008981Calf muscle hypertrophy
HP:0012378Fatigue
HP:0012452Restless legs
HP:0030319Weakness of facial musculature
HP:0031546Cardiac conduction abnormality
HP:0100543Cognitive impairment
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Germany | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Finland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.17 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)