About Multi-Minicore Disease
Multi-Minicore Disease is a congenital myopathy characterised by multiple small areas of reduced oxidative enzyme activity (minicores) on muscle biopsy, caused most commonly by bi-allelic mutations in SELENON (formerly SEPN1) or RYR1. The SELENON form has a distinctive phenotype of rigid spine, early respiratory failure disproportionate to limb weakness, and scoliosis; the RYR1 form is more variable and may overlap with Central Core Disease. Respiratory failure is the major cause of morbidity.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Multi-Minicore Disease trials.
Genetic subtype (SELENON vs RYR1) is required as trials target distinct mechanisms; bi-allelic mutation confirmation via sequencing is standard
Respiratory assessments including upright and supine FVC, overnight oximetry, and sleep study are primary eligibility criteria given the prominence of respiratory involvement
MRI patterns of muscle involvement differ between SELENON and RYR1 forms and are increasingly used as imaging biomarkers — a whole-body muscle MRI before trial application is highly beneficial
Patient Resources
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