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Nemaline Myopathy: NEB Related
What is Nemaline Myopathy: NEB Related?
NEB-related Nemaline myopathy is an inherited muscle disorder that typically affects muscles of the face, neck and limbs. There are six different types of Nemaline myopathy classified based on the age of the individual and the signs of the disorder. The most common type of this disorder is the typical congenital form and symptoms usually appear right after the baby is born or in the first year of life. They can have muscle weakness, feeding and breathing problems. Motor skills such as learning how to crawl and walk are delayed but most individuals with this type retain the ability to walk throughout their life. In most of the people with NEB-related Nemaline myopathy, the disease does not become worse over time, and most people with this form of the disorder are able to lead independent and active lives with the help of physical therapy. Intellect is not affected by nemaline myopathy. The typical congenital form of nemaline myopathy is caused by pathogenic variants in the NEB gene.
How is Nemaline Myopathy: NEB Related inherited?
NEB-releated nemaline myopathy is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.
What does it mean to be a carrier?
There are generally no signs or symptoms associated with being a carrier for nemaline myopathy. However, the risk to have a child affected with nemaline myopathy is increased. Testing of reproductive partners is recommended for carriers of nemaline myopathy.
How common is Nemaline Myopathy: NEB Related?
NEB-related nemaline myopathy is found worldwide but is more common in the Ashkenazi Jewish population, where it affects 1 in 47,000 newborns.
What is analysed?
Copy number analysis: exons 55
|Ethnicity||Detection Rate||Carrier Frequency|
|General Population||< 1%||1 in 224|