Inclusion Body Myopathy 2

Inclusion Body Myopathy 2 [GNE]: In this adult onset disease decreased production of sialic acid results in progressive proximal and distal muscle weakness. Additionally, there is muscle wasting of the upper and lower limbs with sparing of the quadriceps muscles leading to severe incapacitation within 10 to 20 years.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 10