NEB-related nemaline myopathy is a milder form of the disease, referred to as “typical” or “typical congenital” nemaline myopathy. Affected individuals may have feeding and breathing difficulties in infancy, as well as delayed motor development. This may delay the onset of walking, but affected individuals eventually develop the strength to walk. In most affected people, the disease does not become progressively worse.
A physician knowledgeable of its symptoms may recommend muscle biopsy as well as genetic testing of the NEB gene, which involves a simple blood test. Muscle from people affected by nemaline myopathy has a distinctive pattern with thin thread-or rod-like structures in the muscle cells. It is important to note that these structures are also seen in other, unrelated conditions. For this reason the muscle sample findings must be considered along with the physical signs and/or molecular tests, in order for a diagnosis of nemaline myopathy to be made.
There is currently no effective treatment to halt the progression of nemaline myopathy, but symptoms can be managed with supportive and preventive care, including physical therapy. Aggressive treatment of respiratory illnesses is imperative so as not to compromise breathing. Speech therapy and nutritional support may also be needed in some cases.
Respiratory problems are a primary concern for people with all forms of nemaline myopathy, and though in some severe cases this may threaten life expectancy, aggressive proactive care allows most individuals to survive and lead active lives.
Genetic testing for one mutation on the NEB gene can identify 95% of Ashkenazi Jewish carriers. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their family.
Testing is available to those with a previously affected child or to couples found to be at risk as carriers.