What Your Test Results Mean:

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.

Disease Explained:

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:

Prognosis is generally favorable. Affected individuals usually require a wheelchair 20-30 years after disease onset, but lifespan is not shortened.

Treatment:

There is no cure for this disease, but physical and occupational therapy can help individuals retain strength and mobility for as long as possible.