Nemaline Myopathy is a rare genetic disorder that affects the muscles. It is characterized by the presence of abnormal thread-like structures called nemaline bodies within the muscle fibers. These structures can impair muscle function and lead to muscle weakness, poor muscle tone, and delayed motor development.
One of the most common questions asked about Nemaline Myopathy is whether it is hereditary. The answer is yes. Nemaline Myopathy is typically inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected.
The specific genes associated with Nemaline Myopathy are known as the NEB gene, ACTA1 gene, TPM3 gene, and others. Mutations in these genes can disrupt the normal structure and function of muscle proteins, leading to the formation of nemaline bodies and the characteristic symptoms of the condition.
When both parents are carriers of a mutated gene, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and develop Nemaline Myopathy. There is a 50% chance that the child will be a carrier like the parents, and a 25% chance that the child will inherit two normal copies of the gene.
It is important for individuals with a family history of Nemaline Myopathy to consider genetic counseling and testing. Genetic testing can help determine carrier status and assess the risk of passing on the condition to future children.