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.
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.
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.
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