Q What are the alternative names and abbreviations of this condition?
A Alternative Names Include; Multicore Myopathy, Minicore Myopathy, Multicore/Minicore Myopathy, Multiminicore Myopathy, Multicore Disease, Minicore Disease, Multiminicore Disease, SEPN1 related Myopathy, RYR1 related Myopathy, Congenitial Minicore Myopathy, Congenital Multicore Myopathy, Rigid Spine Muscular Dystrophy & Rigid Spine Syndrome
Abbreviations Include; MmD, MMM, MCM, CMM, RSMD & RSS
Q When was Minicore Myopathy first identified and who by?
A It was first discovered and documented in 1971 by Dr Engel but originally called Multicore Myopathy. It wasn't until 1974 when the name of the condition was changed to Minicore Myopathy as it's prefered name.
Q Is Minicore Myopathy a Genetic condition?
A Yes, it can be Autosomal Dominant, Autosomal Recessive or Sporadically inherited.
Q What Causes Minicore Myopathy?
A 2 genetic mutations have been identified since 2004 for this condition. These are called SEPN1 and RYR1. SEPN1 gene mutations are normally seen in people with Autosomal Dominent inheritance, whereas RYR1 mutations are seen in people that have a Autosomal Recessive pattern of inheritance. It is important to remember that 30% of people diagnosed with Minicore Myopathy have NEITHER of these genetic mutations. Children's Hospital Boston, USA stated there are other mutations yet to be discovered.
Q Is Minicore Myopathy gender specific?
A No, Minicore Myopathy affects males and females equally.
Q What forms of Minicore Myopathy are there?
A There are currently 4 known forms of Minicore Myopathy. These are
Classic Form (75%)
Progressive Form With Hand Involvement (<10%)
Antenatal Form With Arthrogryposis Multiplex Congenita (<10%)
Ophthalmoplegic Form (2%)
It is important to note however alot of those diagnosed seem to have mixed forms or have a form yet to be documented in medical books.
Q What is the prognosis?
A Most people remain ambulant well into adulthood despite the need for non-invasive ventilation. Though a small percentage of those diagnosed are more severely affected in childhood and the need for NIV becomes apparent early on. For those individuals their prognosis is that they have a "life threatening" or "life limiting" condition. Chest infection/pneumonias pose the biggest threat to someone with weak respiratory muscles. Management of respiratory infection is of great importance, usually requiring the aid of a Cough Assist/ Percussion Vest and/or nebulizer treatments as the common cold can become life threatening very quickly! Respiratory and/or Cardiac failure are the main causes of death in patients with Minicore later in life. For this reason some specialists do label this condition a terminal illness. Families need to keep in mind that this condition is varies from person to person, a prognosis should only be made by your/your childs specialist Neuromuscular consultant on an INDIVIDUAL bases. With the advancements in respiratory technology, people with all kinds of muscle wasting conditions are living longer and fuller lives!