Inclusion Body Myopathy 2 (GNE)

Inclusion body myopathy 2 is an autosomal recessive disorder caused by pathogenic variants in the GNE gene.It has the highest prevalence in individuals with Caucasian, Asian, Ashkenazi Jewish, or Sephardic Jewish (Iranian or Syrian) ancestry. The clinical presentation is characterized by progressive muscle weakness starting in the legs and moving upward. Patients will usually develop gait disturbance, foot drop, and become wheelchair-bound within 20 years of onset. The muscles of the eyes, heart, and lungs are usually not affected. Symptoms typically begin to develop in late teenage/early adult years, but in rare cases people have been found to carry disease-causing variants but never develop symptoms. Lifespan is typically not decreased. Several specific variants have been associated with a severe disease phenotype, but for many variants it is not possible to predict the severity of disease.

For information about carrier frequency and residual risk, please see the residual risk table.