Nemaline Myopathy is a rare genetic disorder that is related to the muscles. The signs and symptoms vary greatly based on the age of the affected individual. Along with muscle weakness, hypotonia and absent reflexes are also seen. There can be weakness of respiratory muscles, facial muscles or even the heart muscles.
HOW IS NEMALINE MYOPATHY DIAGNOSED?
A thorough clinical examination, detailed patient and family history and identification of characteristic findings are followed during diagnosis of Nemaline Myopathy. During diagnosis of Nemaline Myopathy, general physicians may look for fine, thread-like or rod-like structures are found during examination. Molecular genetic testing helps confirm the condition
HOW IS NEMALINE MYOPATHY TREATED?
No cure is available for the condition. Treatment is aimed at reducing the specific symptoms. Infants with nemaline myopathy may benefit from a program involving mild-to-moderate, low-impact exercise, massage, and stretching techniques. Respiratory support may become necessary in some cases.
DID YOU KNOW?
In most cases, these people are able to live full lives, but they do have muscle weakness issues and this muscle loss tends to just get more with time - thus reducing energy levels and restricting movements.