Autoszomális recesszív
Caused by changes in both copies of MEGF10, which affects satellite cells, the stem cells of muscle, as they differentiate into muscle fibres. Severe forms are known as early-onset myopathy with areflexia, respiratory distress and dysphagia (EMARDD).
Tünetek és jelek
In the severe form, weakness and absent reflexes are present at birth or in infancy, with breathing difficulties needing ventilation, swallowing problems and later scoliosis and joint contractures. Milder forms begin in childhood or adulthood with slowly progressive weakness, sometimes affecting breathing.
Mit változtat a diagnózis
Care includes monitoring and support of breathing, including noninvasive ventilation, feeding support, physiotherapy and scoliosis management. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.
Vizsgált gének
Más néven
congenital myopathy 10A, severe variant; early-onset myopathy, areflexia, respiratory distress and dysphagia; early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome; EMARDD; MEGF10 myopathy
