📂 Diseases
neuronopathy, distal hereditary motor, type 2C — Definition
Distal herediter motor nöronopati, tip 2C / neuronopathy, distal hereditary motor, type 2C
Distal eachediter motor neuronopathy type 2C is a rare genetic disease, characterized by progressive degeneration of motor neurons, showing autozomal resessive transition. The disease begins with weakness and atrophy in dystal muscles, especially like hands and feet, over time proximal muscles can also affect. Type 2C is caused by mutations in TRPV4 gene, and often occurs in early childhood, can accompany additional findings such as skolyoz and weakness in respiratory muscles.
Frequently Asked Questions
❓ What is Distal herediter motor nöronopati, tip 2C?
Distal herediter motor nöronopati, tip 2C; distal eachediter motor neuronopathy type 2C is a rare genetic disease, characterized by progressive degeneration of motor neurons, showing autozomal resessive transition. The disease begins with weakness and atrophy in dystal muscles, especially like hands and feet, over time proximal muscles can also affect. Type 2C is caused by mutations in TRPV4 gene, and often occurs in early childhood, can accompany additional findings such as skolyoz and weakness in respiratory muscles.
❓ What is neuronopathy, distal hereditary motor, type 2C in Turkish?
The Turkish equivalent of "neuronopathy, distal hereditary motor, type 2C" is Distal herediter motor nöronopati, tip 2C.
❓ Which medical field is Distal herediter motor nöronopati, tip 2C related to?
This term belongs to the Diseases category.