Inclusion body myopathy 2

Disease Overview

Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy,  distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time.[5664] Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance.[5665] Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner.[5664] Treatment is focused on managing individual symptoms.[5666]

Synonyms

• IBM2
• Inclusion body myopathy, autosomal recessive
• Inclusion body myopathy, quadriceps-sparing
• QSM
• Hereditary inclusion body myopathy
• HIBM
• Distal myopathy with rimmed vacuoles
• DMRV
• Nonaka myopathy
• Rimmed vacuole myopathy
• GNE myopathy
• Quadriceps Sparing Myopathy