Multiminicore Disease

A new disease profile is added to our database – Multiminicore Disease (MmD). Multiminicore disease (MmD) is a type of congenital myopathy. It is clinically heterogeneous with common features being onset at birth or in infancy and proximal and axial muscular weakness. Congenital myopathies are a group of hereditary relatively non-progressive diseases with onset in early life. The major clinical symptom is muscular weakness, often with dysmorphic features. Multiminicore myoptahy constitutes about 10% of congenital myopathies. Mutations in SEPN1 and RYR1 genes account for about half the cases of MmD. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in pediatrics – Dr. Ivan Ivanov, MD, PhD.