📂 Diseases
nemaline myopathy — Definition
Nemalin miyopatisi / nemaline myopathy
Nemalin myopathy is a type of congenital myopathy, characterized by the accumulation of rod-like (nemalin) structures in muscle fibers. The disease usually manifests itself with muscle weakness, hypotonia (low muscle tone) and delay in motor development. Due to the retention of respiratory muscles, respiratory failure is a frequent complication, and the severity of the disease varies from mild to deadly rare forms depending on genetic mutation.
Frequently Asked Questions
❓ What is Nemalin miyopatisi?
Nemalin miyopatisi; nemalin myopathy is a type of congenital myopathy, characterized by the accumulation of rod-like (nemalin) structures in muscle fibers. The disease usually manifests itself with muscle weakness, hypotonia (low muscle tone) and delay in motor development. Due to the retention of respiratory muscles, respiratory failure is a frequent complication, and the severity of the disease varies from mild to deadly rare forms depending on genetic mutation.
❓ What is nemaline myopathy in Turkish?
The Turkish equivalent of "nemaline myopathy" is Nemalin miyopatisi.
❓ Which medical field is Nemalin miyopatisi related to?
This term belongs to the Diseases category.