early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome — Definition

Erken başlangıçlı miyopati-arefleksi-solunum sıkıntısı-disfaji sendromu; it is a rare genetic disease and characterized by muscle weakness (miyopathy), the loss of deep tendon reflexes (arefleksi), severe respiratory shortage and swallow strength (disphagia) that affects respiratory muscles. The disease usually shows autozomal resessive inheritance and is caused by specific gene mutations. The clinical picture is progressive and can threaten life due to respiratory failure.

The Turkish equivalent of "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome" is Erken başlangıçlı miyopati-arefleksi-solunum sıkıntısı-disfaji sendromu.

This term belongs to the Diseases category.