Obtaining a diagnosis is a difficult and trying journey for many families. Depending on the country you live in and what your health services are it can take months or even several years to get to the diagnosis of Minicore Myopathy. During this time period there is often little help or support to ease things in the meantime. Access to vital Physiotherapy, Occupational Therapy, Speech, financial assistance and equipment needs can be quite a battle. Unfortunitely alot of people tend to get misdiagnosed in infancy with other kinds of Muscular Dystrophies and have to go through testing again to get the right diagnosis.
Because we understand how hard it is NOT knowing what the future holds we offer a wide range of support for families that have an unspecific Congenital Myopathy or tentative diagnosis of Minicore Myopathy. Nobody should be left to feel isolated in this journey, so we encourage families to reach out to us. Even if at the end the diagnosis is not Minicore Myopathy we will help you find the right support network.
How is Minicore Myopathy Diagnosed?
Muscle Biopsy This is done in one of two ways: either a small piece of sample is taken under general anesthetic or a needle biopsy is performed to remove a sample. The sample will be analysed under a microscope.
Muscle tissue from a person with Minicore Myopathy will have a certain characteristic pattern. Normal muscle tissue has two different kinds of fibre; type 1 and type 2. Muscle from people with Minicore Myopathy has more type 1 fibres than type 2. Also, within these fibres, there are structures which are called 'cores.'; which can be seen under the microscope. These structures are not specific to Minicore Myopathy, and so the clinical features much be considered together with the muscle sample to give a definite diagnosis. To learn more about the procedure of obtaining a muscle biopsy click here.
Molecular testing is not currently available for Minicore Myopathy, though it maybe available to families where the specific genetic error (SEPN1 or RYR1) has been identified, but a genetic testing centre would need to advise if this was possible.
What other tests are available?
Since genetic testing is not available for this condition, prenatal diagnosis is also not available. However in families where the genetic error has been identified, both prenatal testing and carrier testing maybe possible, but again a genetic testing centre would have to advise if this was the case.