📂 Diseases
proximal myotonic myopathy — Definition
Proksimal miyotonik miyopati / proximal myotonic myopathy
Proximal myothyral myopathy is a neuromuscular disease, characterized by miozomal dominant transition, and proximal muscle weakness in muscles. It usually starts at the adult age and unlike the classic myolinear dystrophy that affects dystal muscles, especially the hip and shoulder mice keep muscles close to the body. The disease occurs as a mutation in DM2 gene (ZNF9) and can accompany multisystemic findings such as cataract, cardiac transmission disorders. It is subject to diagnosis, clinical evaluation, electromiography (EMG) and genetic tests.
Frequently Asked Questions
❓ What is Proksimal miyotonik miyopati?
Proksimal miyotonik miyopati; proximal myothyral myopathy is a neuromuscular disease, characterized by miozomal dominant transition, and proximal muscle weakness in muscles. It usually starts at the adult age and unlike the classic myolinear dystrophy that affects dystal muscles, especially the hip and shoulder mice keep muscles close to the body. The disease occurs as a mutation in DM2 gene (ZNF9) and can accompany multisystemic findings such as cataract, cardiac transmission disorders. It is subject to diagnosis, clinical evaluation, electromiography (EMG) and genetic tests.
❓ What is proximal myotonic myopathy in Turkish?
The Turkish equivalent of "proximal myotonic myopathy" is Proksimal miyotonik miyopati.
❓ Which medical field is Proksimal miyotonik miyopati related to?
This term belongs to the Diseases category.