For Clinicians

HSPB8 Myopathy, or Myofibrillar Myopathy Type 13 with Rimmed Vacuoles is an ultra-rare, slowly progressing autosomal dominanant. Mutations in HSPB8 gene, which have previously been associated with Charcot-Marie-Tooth type 2L and distal hereditary motor neuronopathy type IIa, have more recently also been reported to cause Myopathy with Rimmed Vacuoles. Affected patients have distal and proximal limb girdle myopathy. Muscle biopsy displays histologic features of myofibrillar myopathy with aggregates and rimmed vacuoles. 

HSPB8 protein is a chaperone involved in the Chaperone Assisted Selective Autophagy (CASA) complex. HSPB8 in conjunction with BAG3 recognizes and promotes the autophagy-mediated removal of misfolded proteins associated with motor neuron disease, Alzheimer, Parkinson, Huntington, and spinocerebellar Ataxia 3.