EP 12: Journal Club: Putko et al., 2026 | Expanding the Clinical Spectrum of HSPB8 Disease

EP 12: Journal Club: Putko et al., 2026 | Expanding the Clinical Spectrum of HSPB8 Disease

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 ideal for researchers, clinicians, patients, and advocates interested in HSPB8 disorders, myofibrillar myopathy, distal motor neuropathy, and disease mechanisms.

EP 11: Living with MFM13: Stories Behind the Diagnosis

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, building a strong community, and working toward effective treatments and a cure. This episode is ideal for patients, families, clinicians, and researchers interested in MFM13, rare neuromuscular diseases, and the real-world impact of living with a progressive myopathy.

EP 10: Journal Club: Inoue and Weihl, 2025 | What Makes an MFM? Rethinking Disease Mechanisms

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 the distinction between so called, true MFMs and other myopathies with similar pathology, as well as the implications for diagnosis and future targeted therapies.

EP 9: Journal Club, Yang et al, 2024 | New Insights Into Pediatric Case of MFM13

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 researchers, clinicians, and patients interested in MFM13, HSPB8 myopathy, rare pediatric neuromuscular cases, and autophagy-related mechanisms. Please note that the article refers to the MFM13 disease as HSPB8-related myopathy.

EP 8: Clinical features of HSPB8 myopathy

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 muscles, occasionally affecting breathing or cardiac function. We also discuss the characteristic pathological findings seen in muscle biopsies: rimmed vacuoles, myofibrillar disorganization, and accumulation of proteins like HSPB8, BAG3, and TDP-43. MRI scans often reveal selective fatty degeneration of paraspinal and leg muscles. Finally, we highlight the key discovery that frameshift mutations in HSPB8 result in an abnormal C-terminal peptide extension, creating a toxic gain-of-function mechanism that disrupts autophagy and cellular proteostasis — defining the molecular basis of MFM13. Learn more about our work at curemfm13.org [http://curemfm13.org], and follow us on Facebook, LinkedIn, X, and Bluesky — just search for CureMFM13.