Cure MFM13 - The Podcast

In this Journal Club episode, we discuss the publication by Putko et al. (2026), which describes two patients with HSPB8 variants presenting with overlapping features of myopathy and distal motor neuropathy. The study expands the clinical and pathological spectrum of HSPB8-associated disease and provides new insights into how disease-causing variants may affect HSPB8 function. This episode is idea...

In this episode, we focus on the patient journey in MFM13 , sharing real-life stories from individuals affected by HSPB8-related myopathy. Through their experiences, we explore the challenges of early symptoms, delayed diagnosis, disease progression, and the impact on daily life and families. We also one more time introduce CureMFM13, a patient-driven initiative dedicated to accelerating research,...

This podcast discusses the recent publication by Inoue and Weihl (2025) on myofibrillar myopathies (MFMs), focusing on their redefinition as “Z-disk-opathies.” In this episode we explore how new genetic findings challenge the traditional, histopathology-based classification and highlight key disease mechanisms, including Z-disk disruption and impaired protein homeostasis. The episode also covers t...

In this Journal Club episode, we review the publication by Yang et al., 2024 , which presents the first Chinese case of Myofibrillar Myopathy type 13 with Rimmed Vacuoles (MFM13 ) in a pediatric patient . Unlike previously reported MFM13 cases, this young patient exhibits axial and limb-girdle muscle involvement , highlighting a novel early-onset presentation . This episode is ideal for researcher...

In this episode, we summarize what is known about Myofibrillar Myopathy type 13 (MFM13) , previously referred to as HSPB8 Myopathy . Drawing on nine published case studies, we outline the main clinical features — progressive muscle weakness and atrophy, usually starting in the distal lower limbs and leading to foot drop and steppage gait. In some cases, weakness extends to proximal and axial muscl...

In this episode, we look at the 2025 study by Tedesco et al., “Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models,” published in the European Journal of Human Genetics. The researchers revealed three new mutations in HSPB8 that result in a previously undescribed frameshift. These mutations create a long...

Episode 6 - What is Myofibrillar Myopathy type 13 (MFM13) with rimmed vacuoles? In this episode, we take a deep dive into the molecular mechanisms behind Myofibrillar Myopathy type 13 (MFM13) with Rimmed Vacuoles also known as HSPB8 Myopathy —a rare myofibrillar disease caused by frameshift mutations in the HSPB8 gene. Learn how HSPB8 dysfunction disrupts the CASA complex and impairs autophagy, le...

Episode 5 – Tedesco et al. 2023: Molecular Insights into HSPB8 In this episode, we dive into the 2023 study by Tedesco et al., titled "HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies," published in Autophagy . The research reveals how frameshift mutations in the HSPB8 gene lead to toxic protein aggregation and disrupt critical protein quality con...

In this episode, we explore the key clinical features of HSPB8 Myopathy - an ultra-rare, autosomal dominant, progressive muscle-wasting condition. With fewer than 30 documented cases, awareness among clinicians is limited. We discuss when to suspect HSPB8 Myopathy, what signs to look for, and why genetic testing is essential for diagnosis. If you're a healthcare professional working with patients...

How can a small heat shock protein cause big problems in muscle and nerve cells? This episode explores HSPB8 , a key player in chaperone-assisted selective autophagy (CASA), which helps clear misfolded and damaged proteins. What neuromuscular disorders are linked to HSPB8 mutations? How do specific variants — from missense to frameshift — give rise to distal hereditary motor neuropathy (dHMN), Cha...

Episode 2 – Introduction to HSPB8 Myopathy: What You Need to Know In this episode, we break down HSPB8 Myopathy , a rare genetic condition that causes progressive muscle weakness and degeneration. We’ll explore how mutations in the HSPB8 gene lead to the formation of rimmed vacuoles in muscle fibers, and why genetic testing is so important for diagnosing the condition. Whether you're affected by t...

Episode 1 – Our Mission, Our Vision, Our Voice Welcome to the Cure HSPB8 Podcast. In this inaugural episode, we share how and why Cure HSPB8 came to be — and what drives our mission to improve the lives of everyone affected by HSPB8 Myopathy. You’ll hear about the challenges of diagnosing and treating this ultrarare disease, our strategic goals, and how we’re building a global community around hop...