📂 Diseases
autosomal recessive limb-girdle muscular dystrophy type 2N — Definition
Otozomal resesif limb-girdle musküler distrofi tip 2N / autosomal recessive limb-girdle muscular dystrophy type 2N
Otozomal resesif is a rare type of muscle dystrophy caused by mutations in POMT2 gene. The disease is characterized by numb-girdle, especially in muscles around the shoulder and hips. Clinical symptoms often start during childhood or adolescence and include findings such as walking strength, drop-down trend, scapsular wing. This type is located in the group of alpha-distroglycan glycoside disorders and can also accompany cardiac or respiratory arrest.
Frequently Asked Questions
❓ What is Otozomal resesif limb-girdle musküler distrofi tip 2N?
Otozomal resesif limb-girdle musküler distrofi tip 2N; otozomal resesif is a rare type of muscle dystrophy caused by mutations in POMT2 gene. The disease is characterized by numb-girdle, especially in muscles around the shoulder and hips. Clinical symptoms often start during childhood or adolescence and include findings such as walking strength, drop-down trend, scapsular wing. This type is located in the group of alpha-distroglycan glycoside disorders and can also accompany cardiac or respiratory arrest.
❓ What is autosomal recessive limb-girdle muscular dystrophy type 2N in Turkish?
The Turkish equivalent of "autosomal recessive limb-girdle muscular dystrophy type 2N" is Otozomal resesif limb-girdle musküler distrofi tip 2N.
❓ Which medical field is Otozomal resesif limb-girdle musküler distrofi tip 2N related to?
This term belongs to the Diseases category.