Basically Nemaline Myopathy is a disorder that affects the body’s skeletal muscles or the muscles that are responsibly primarily for movements. These include muscles of the face, neck, and limbs. The common symptoms here comprise of weakness in these muscles which is accompanied with pain, trouble walking, feeling of loss of balance and other relevant symptoms too.
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.
DID YOU KNOW?
This disease is caused by a variety of genetic defects, each one affecting one of the filament proteins required for muscle tone and contraction. It can be inherited in an autosomal recessive or autosomal dominant pattern, meaning it can be produced by defective genes contributed by either one or both parents.