Distal myotilinopathy
ORPHA:98911DiseaseAutosomal dominantAdult, Elderly
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)8
HP:0001288Gait disturbance
HP:0001265Hyporeflexia
HP:0003547Shoulder girdle muscle weakness
HP:0003701Proximal muscle weakness
HP:0003749Pelvic girdle muscle weakness
HP:0009063Progressive distal muscle weakness
HP:0009830Peripheral neuropathy
HP:0030226Abnormal muscle fiber myotilin
Частый (30–79%)20
HP:0001260Dysarthria
HP:0001611Hypernasal speech
HP:0002460Distal muscle weakness
HP:0002540Inability to walk
HP:0002828Multiple joint contractures
HP:0003236Elevated circulating creatine kinase concentration
HP:0003458EMG: myopathic abnormalities
HP:0003551Difficulty climbing stairs
HP:0003552Muscle stiffness
HP:0003557Increased variability in muscle fiber diameter
HP:0003693Distal amyotrophy
HP:0003698Difficulty standing
HP:0003736Autophagic vacuoles
HP:0005085Limited knee flexion/extension
HP:0006376Limited elbow flexion
HP:0006794Loss of ability to walk in first decade
HP:0009027Foot dorsiflexor weakness
HP:0012515Hip flexor weakness
HP:0012548Fatty replacement of skeletal muscle
HP:0100297Increased endomysial connective tissue
Периодический (5–29%)9
HP:0000297Facial hypotonia
HP:0001638Cardiomyopathy
HP:0002015Dysphagia
HP:0002093Respiratory insufficiency
HP:0002792Reduced vital capacity
HP:0002795Abnormal respiratory system physiology
HP:0002878Respiratory failure
HP:0009073Progressive proximal muscle weakness
HP:0012496Reduced maximal inspiratory pressure
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.9 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)