Download FACTS ABOUT InclusIon Body Myopathy 2

Genetics Uncoded:
FACTS ABOUT Inclusion Body Myopathy 2
AKA | Distal myopathy with rimmed vacuoles, DMRV, Hereditary inclusion body myopathy, HIBM, IBM2, Autosomal recessive inclusion body myopathy, Quadriceps-sparing inclusion body myopathy,
QSM, Nonaka myopathy, Rimmed vacuole myopathy, Troisier-Hanot-Chauffard syndrome, Von Recklenhausen-Applebaum disease
What Your Test Results Mean
Testing results indicate that you are a carrier of inclusion body myopathy 2. Carriers typically show no symptoms of
inclusion body myopathy 2; however, carriers are at an increased risk of having a child with inclusion body myopathy 2. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of
your partner is recommended in addition to consultation with a genetic counselor.
Inclusion Body Myopathy 2 Explained
How the Genetics Work
Inclusion body myopathy 2 is an inherited condition that slows
the body’s production of sialic acid, a sugar molecule that allows cells in a tissue 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
will have progressed to the point that the person can no longer
walk and is confined to a wheelchair. Inclusion body myopathy
2 does not weaken the eye and heart muscles, and does not
cause neurological symptoms. There is no cure for this disease, but physical and occupational therapy can help individuals retain strength and mobility for as long as possible.
Inclusion body myopathy 2 is caused by mutations in the GNE
gene. In general, individuals have two copies of the GNE gene.
Carriers of inclusion body myopathy 2 have a single mutation in
one copy of the GNE gene while individuals with inclusion body
myopathy 2 have mutations in both copies of their genes, one
inherited from each parent. Risk for two carriers to have a child
with the disorder is 25%.
Recommended Next Steps
Carrier testing of your partner is recommended in addition
to consultation with a genetic counselor for more detailed
risk assessment.
Questions?
Contact us at (855) 776-9436 to set up an appointment to
discuss your results in more detail with a NxGen MDx genetic
counselor.
Precise genetic carrier screening
801 Broadway Ave NW, Suite 203 , Grand Rapids, MI 49504 • Phone: (855) 776-9436 • Fax: (616) 710-4667
[email protected] • www.nxgenmdx.com
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