HSPB8 Myopathy is now officially MFM13
✨ Big News: HSPB8 Myopathy is now officially Myofibrillar Myopathy type 13 with rimmed vacuoles (MFM13)✨
We’re thrilled to share that CureHSPB8 is now listed in the Online Mendelian Inheritance in Man® (OMIM) database — an essential, globally recognized resource connecting human genes with associated diseases. This recognition marks a significant milestone for the HSPB8 community, helping to build awareness and improve access to resources for families affected by this rare condition.
🔍 Explore our HSPB8 gene listing on OMIM: HSPB8 Gene - OMIM Entry 608014
🔍 Learn about the related phenotype: Myofibrillar Myopathy-13 with Rimmed Vacuoles (MFM13) - OMIM Entry 621078
🔍 Our official OMIM number: # 621078
A huge thank you to the dedicated researchers who made this recognition possible and to OMIM for this important update!
🧠 Why Correct Classification Matters
Rare diseases like HSPB8 Myopathy often face an uphill battle for recognition, research, and access to care. That’s why having an accurate, standardized classification — now officially recognized as Myofibrillar Myopathy type 13 (MFM13) — is so important.
Proper disease classification ensures:
Better diagnosis: When healthcare professionals recognize the disease under a clear, established name, patients are more likely to get an accurate and faster diagnosis.
Improved research opportunities: A standardized classification fuels research by helping scientists categorize data, identify patterns, and collaborate more effectively.
Increased visibility: Rare diseases often remain overlooked. An official name in databases like OMIM brings legitimacy and visibility, encouraging more clinicians, researchers, and advocates to pay attention.
Stronger connections for families: Patients and caregivers can find each other, access existing resources, and build supportive communities.
Correct naming and classification make a rare disease visible — and visibility is a powerful tool in the fight for better treatments, research funding, and policy changes.
🧬 HSPB8 Myopathy — What’s in a Name?
Rare diseases often go by multiple names in scientific literature, which can make it harder for patients to find the right information and support. Here are some of the alternate names for HSPB8 Myopathy you might come across:
HSPB8 Inclusion Body Myopathy with Rimmed Vacuoles
HSPB8 Rimmed Vacuolar Myofibrillar Myopathy (Ghaoui et al., 2016)
Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome (Orphanet)
Limb-Girdle Rimmed Vacuolar Myopathy (Nicolau et al., 2020)
Multisystem Proteinopathy (MSP) or MSP-like Disorder (Chompoopong et al., 2024)
Autosomal Dominant Rimmed Vacuolar Myopathy (Al Tahan et al., 2019)
ORPHA:476093 (Orphanet)
No matter which name you encounter, they all refer to the same underlying condition. The new official classification as Myofibrillar Myopathy type 13 (MFM13) gives patients and researchers a unifying term to work with, making it easier to connect the dots across different studies and databases.
This is a huge step forward for the HSPB8 community — one that brings us closer to greater understanding, better care, and, ultimately, more hope. 💙
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