📂 Diseases
congenital muscular dystrophy type 1C — Definition
konjenital musküler distrofi tip 1C / congenital muscular dystrophy type 1C
Congenital muscular dystrophy type 1C is a muscle disease with muscle weakness and hypotoni manifested in childbirth or early childhood, resulting from mutations in the FKRP gene. This type leads to delay and progressive muscle melting in motor development by affecting proximal muscles. The disease often carries a risk of respiratory failure due to the retention of respiratory muscles and cardiac arrest is rare. Diagnosis, clinical findings, serum creatin kinasis height and genetic tests.
Frequently Asked Questions
❓ What is konjenital musküler distrofi tip 1C?
konjenital musküler distrofi tip 1C; congenital muscular dystrophy type 1C is a muscle disease with muscle weakness and hypotoni manifested in childbirth or early childhood, resulting from mutations in the FKRP gene. This type leads to delay and progressive muscle melting in motor development by affecting proximal muscles. The disease often carries a risk of respiratory failure due to the retention of respiratory muscles and cardiac arrest is rare. Diagnosis, clinical findings, serum creatin kinasis height and genetic tests.
❓ What is congenital muscular dystrophy type 1C in Turkish?
The Turkish equivalent of "congenital muscular dystrophy type 1C" is konjenital musküler distrofi tip 1C.
❓ Which medical field is konjenital musküler distrofi tip 1C related to?
This term belongs to the Diseases category.