Nemaline Myopathy

Nemaline myopathy is an autosomal dominant inherited disease of voluntary muscle that is usually nonprogressive. The most common form of the disease is not fatal, although a rare form of the disorder is. 

People with nemaline myopathy can have weakness in their leg, arm. neck and trunk muscles, accompanied by some mild weakness of the face, tongue and throat muscles. Reflexes are decreased or absent. Affected children often have long, narrow faces with high-arched palates and slender body musculatures. High-arched feet and curvature of the spine are common, and the jaw may also be malformed. The severest form of nemaline myopathy usually appears at birth. Affected children have a marked weakness and a lack of muscle tone. Their respiratory muscles are weak, and death can occur in the first few years of life due to respiratory failure. 

It is also known as Rod body disease, nemaline rod myopathy, rod myopathy, congenital rod myopathy, congenital rod disease, congenital myopathy, congenital nemaline myopathy.