Clinical Presentation 

HSPB8 Myopathy typically manifests in the second, third, or fourth decade of life. It is characterized by progressive muscle weakness, which may initially appear either proximally or distally. The condition predominantly affects the lower limbs and gradually spreads to the truncal muscles and upper limbs. Due to its progressive nature, individuals experience increasing difficulty with muscle strength and mobility over time. More clinical information can be found in the ‘for clinicians’ section.