From Gene to Diagnosis: Cure HSPB8 is now Cure MFM13!

Until recently, the condition we focus on was known by several names, including HSPB8 Myopathy and Distal Myopathy with Rimmed Vacuoles (discussed in disease classification section of our website) This heterogeneity made it difficult for those affected and for the scientific community to find consistent, accurate information.

At the beginning of 2025, thanks to an important update in the Online Mendelian Inheritance in Man (OMIM) database, the condition has been formally classified as Myofibrillar Myopathy type 13 with Rimmed Vacuoles (MFM13).

This is especially important as mutations in HSPB8 gene can lead to three different conditions – not only MFM13, but also Charcot Marie Tooth type 2L (CMT2L) and Distal Hereditary Motor Neuronopathy, type 2 (HMND2). To reflect this milestone and ensure clarity, Cure HSPB8 is becoming Cure MFM13.

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Why rebranding matters

Our new name aligns our organization with the official medical classification of the disease, bringing clarity and unity across the entire community.

• For patients and families, it means easier access to accurate information, shared identity, and a clearer path to connect with others affected.

• For clinicians and researchers, it provides consistency in diagnosis, communication, and collaboration.

• For partners and supporters, it reinforces that we are guided by science and committed to transparency.

What remains unchanged

Our mission is stronger than ever. We continue to work tirelessly to:

• Accelerate the drug development process

• Build a strong and empowered community

• Advocate for all people living with MFM13 and their families

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This rebranding marks the beginning of an exciting new chapter for our organization and our community.

📢 Join us as we move forward together — toward clarity, connection, and cures.

Linked In, Facebook, Closed Facebook group for patients and families, X, Bluesky, Cure MFM13 Podcast