What Does NxGen MDx Screen For?
We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.
Inclusion Body Myopathy 2
What Your Test Results Mean:
Test results indicate that you are a carrier of inclusion body myopathy 2. Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of inclusion body myopathy 2 for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.
Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.
Inclusion body myopathy 2 is an inherited condition that slows the body’s production of sialic acid, a sugar molecule that allows cells in tissues to signal and adhere to one another. This disease causes progressive weakening of the skeletal muscles, usually beginning in an affected individual’s late teens or early twenties. About 20 years after symptoms appear, the disease progresses to the point that the person can no longer walk and must use a wheelchair. Inclusion body myopathy 2 does not weaken the eye and heart muscles and does not cause neurological symptoms.
Prognosis is generally favorable. Affected individuals usually require a wheelchair 20-30 years after disease onset, but lifespan is not shortened.
There is no cure for this disease, but physical and occupational therapy can help individuals retain strength and mobility for as long as possible.
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results