Myofibrillar myopathies (MFM)

HSPB8 Myopathy

HSPB8 Myopathy is caused by mutations in the Heat Shock Protein Family B (small) member 8 (HSPB8) gene. When this gene is mutated, autophagy is impaired, leading to the accumulation of proteins within cells and resulting in cell death.

HSPB8 Myopathy is inherited in an autosomal dominant manner and is characterized by the morphological features of myofibrillar myopathy, including aggregates and rimmed vacuoles. Symptoms typically begin in early adulthood, usually in the second or third decade of life. Patients experience slowly progressive muscle weakness and atrophy, initially affecting the distal lower limbs and later progressing to the proximal limbs and trunk muscles.

Patients with mutations in the HSPB8 gene are encouraged to fill out the Global Patient Registry and connect with Cure HSPB8, a charitable project dedicated to addressing the challenges of HSPB8 Myopathy.