Myotonic Myopathy, also called Myotonic dystrophy type 2, is basically a condition that is inherited. A person affected by myotonic myopathy will be troubled by muscle weakness, some heart abnormalities, eye defects and certain other anomalies. The muscles that are close to the trunk, namely the shoulders and the upper trunk, are more affected in this type of disorder.

Myotonic myopathy is usually the result of a mutation in the CNBP gene. This gene exists in a muscle, especially in the heart; and it is known to take care of a very important role in the functioning of the muscles. This gene shows a repeated sequence of nucleotides or DNA building blocks. This sequence is responsible for repeating certain base chemicals like thymine, guanine and cytosine. CCTG tetra-nucleotide repeats is the name given for this. If the repeats are below 26, it is said to be normal. However, if there are more than 75 repeats, myotonic myopathy may occur.

The CCTG repeats may give birth to an abnormal messenger RNA. The main function of this messenger is to copy the instructions of a gene so that it can result in the right protein. When RNA becomes abnormal, it results in the production of some abnormal proteins and these in fact, may give rise to certain symptoms of myotonic myopathy. This disorder is inherited in an autosomal dominant manner. This means, only one parent is usually responsible for the gene mutation and if it is so, there is 50% chance for a child of that parent to inherit this disorder.

Apart from progressive muscle weakness, myotonic myopathy also has symptoms like wasted muscles, tensed muscles, difficulty in releasing grip, difficulty in relaxing muscles especially after movement, cataracts, infertility in men, balding in men and certain heart abnormalities. Certain genetic tests, even prenatal tests, can identify this disorder. Since there is no cure for this disorder, it is advisable to get these prenatal tests done, before a child with myotonic myopathy is born. The complications involved in myotonic myopathy include myotonia, proximal myopathy, cataracts, DNA repeat expansion, and Alopecia.

If a person you know has myotonic myopathy, he can now get disability tax credits. Ask him to contact the Canadian Disability Corporation, which will help him to apply for these credits. He needs to fill up a form that is available on their website. Once this form is filled, a professional from CDC will come to his assistance. He will study his case and then find out what disability tax credits he can apply for. Once this has been researched upon, the professional will help your friend apply for the same.