POMT1-related limb-girdle muscular dystrophy R11
ORPHA:86812DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)2
HP:0003551Difficulty climbing stairs
HP:0001288Gait disturbance
Частый (30–79%)13
HP:0000252Microcephaly
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0002515Waddling gait
HP:0002938Lumbar hyperlordosis
HP:0003236Elevated circulating creatine kinase concentration
HP:0003391Gowers sign
HP:0003557Increased variability in muscle fiber diameter
HP:0003560Muscular dystrophy
HP:0003687Centrally nucleated skeletal muscle fibers
HP:0003701Proximal muscle weakness
HP:0003733Thigh hypertrophy
HP:0008981Calf muscle hypertrophy
Периодический (5–29%)17
HP:0000729Autistic behavior
HP:0001319Neonatal hypotonia
HP:0001638Cardiomyopathy
HP:0001712Left ventricular hypertrophy
HP:0002027Abdominal pain
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002650Scoliosis
HP:0003198Myopathy
HP:0003306Spinal rigidity
HP:0003325Limb-girdle muscle weakness
HP:0003388Easy fatigability
HP:0003700Generalized amyotrophy
HP:0003803Type 1 muscle fiber predominance
HP:0010794Impaired visuospatial constructive cognition
HP:0012735Cough
HP:0031108Triceps weakness
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)