HSPB8

HSPB8 Myopathy overview

Heat Shock Protein family B 8 Inclusion Body Myopathy with Rimmed Vacuoles (HSPB8 Myopathy) is an ultra-rare, autosomal dominant, slowly progressing, adult onset muscle wasting condition. It is a type of myofibrillar myopathy and was first identified by Ghaoui et al, in 2015. It is caused by mutations in the HSPB8 gene with 26 cases identified worldwide so far (Ghaoui et al, 2016; Echaniz-Laguna et al, 2017; Cortese et al, 2018; Nicolau et al, 2020; Inoue-Shibui et al, 2021; Al-Tahan et al, 2019). When this gene is mutated, autophagy is impaired, leading to the accumulation of proteins within cells and resulting in cell death. is characterized by the morphological features of myofibrillar myopathy, including aggregates and rimmed vacuoles. Unfortunately, HSPB8 Myopathy is not routinely included in genetic myopathy panels and therefore heavily underdiagnosed.

Clinical Presentation

The clinical manifestations of this condition remain poorly characterized due to the limited number of patients. 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. The impact on quality of life is significant.

Cure HSPB8

Cure HSPB8 is the only charitable project and advocacy group dedicated to overcoming the challenges posed by HSPB8 Myopathy. Our goal is to find a treatment and a cure for this ultrarare, debilitating condition, expand knowledge of the disease, realize the true number of patients and support the community. We have recently launched a global patient registry, to gather comprehensive data on disease progression, crucial for development of treatments. The next key step forward is a drug repurposing screen in a disease-relevant model, as well as reaching more patients worldwide. Our vision is a future where HSPB8 Myopathy is conquered, treatments are accessible, and the community stands united. No one walks alone.

If you or your loved one is affected by HSPB8 Myopathy, we are here for you. You can reach out to us, join our patient and families-dedicated, closed facebook group, follow us on X and fill in the patient registry. On our website you can sign up for the mailing list, and you cand always simply contact us at:  ania@curehspb8.org and todd@curehspb8.org . We would love to hear from you.