Nemaline Myopathy is a medical condition that primarily affects the skeletal muscles. The skeletal muscles govern the body movements, hence movement is severely affected in Nemaline Myopathy. It is a rare, genetic muscle disorder that is of several subtypes. Symptoms are:
• Muscle weakness
• Reduced or absent muscle reflexes
• Distinctive facial features
• Breathing difficulties
• Delayed development in infants
• Weakness of respiratory muscles
HOW IS NEMALINE MYOPATHY DIAGNOSED?
A diagnosis of nemaline myopathy is suspected based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic findings. A diagnosis may be confirmed by the presence of thread- or rod-like structures (nemaline bodies) on muscle biopsy when stained with Gomori trichrome. A biopsy is the surgical removal and microscopic evaluation of affected tissue. Increasingly the diagnosis is made or confirmed by molecular genetic testing for mutations in the genes known to cause nemaline myopathy.
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.