Nemaline Myopathy
Nemaline Myopathy Causes
Nemaline myopathy is caused by a variety of genetic defects (through gene mutations) each of them has the capacity to affect one or more filament proteins necessary for muscle tone and muscle contraction.
Nemaline Myopathy Definition
Nemaline myopathy is a congenital hereditary neuromuscular disorder that causes muscular weakness that continuously progresses and with varying severity. It is also known as rod myopathy or nemaline rod myopathy. Nemaline myopathy is a clinical and genetical heterogeneous disease. This disorder has two forms: autosomal dominant and autosomal recessive forms. Autosomal dominant form is produced by a defective gene contributed by one parent while autosomal recessive form is produced by defective genes coming from both parents.
Nemaline Myopathy Symptoms and Signs
* Individuals with Nemaline myopathy have moderate weakness in muscles of the leg, trunk and arms along with some weakness of the face, throat, and tongue muscles. * Decreased or absent reflexes * Children affected with nemaline myopathy usually have long, narrow faces with high-arched palates. * Nemaline myopathy children often have slender body musculatures. * High-arched feet * Curvature of the spine * Malformation of the mandible (jaw) * Infants with Nemaline myopathy exhibit remarkable weakness, weak respiratory muscles, low muscle tone, poor sucking, reflux and respiratory failure leading to death during the early years of life.