Discussion about testing and its implications for individuals and families living with DM.Deciding amongst a wide range of genetic testing options considering their prices and insurance coverage options.Understanding the purpose and procedure of a genetic test.Conversations with your genetic counselor may cover: The genetic counselor helps you and your family make several important decisions about testing and diagnosis. The role of a GC encompasses more than genetic test logistics and insurance. Role of a Genetic Counselor: Often times, it is ideal to reach out to a genetic counselor (GC) as early as possible in your journey to a DM diagnosis. The DNA - the genetic material in the nucleus of cells - is then analyzed to determine whether or not you carry the DM1 or DM2 mutation. The genetic test involves collecting DNA through a blood or saliva sample. What Genetic Testing for Myotonic Dystrophy Looks LikeĪ genetic test, also referred to as DNA testing, is required to definitively confirm a diagnosis of DM1 or DM2. This test can be particularly helpful for patients being evaluated for DM2. Sometimes your doctor may order additional tests, such as an electromyography (EMG), to evaluate for electrical myotonia (abnormal muscle activity when a small needle is inserted into the muscle).
If your doctor suspects DM, the next step is to get genetic confirmation with a blood test. If there is another family member, who was already diagnosed with DM, it will be easier for your doctor to consider DM. Sometimes, your doctor can suspect the diagnosis of myotonic dystrophy just based on your symptoms and this physical examination. Your doctor will also perform a physical examination of you. Your doctor will ask about your symptoms, and possible symptoms and signs of DM in other family members. What an Initial Evaluation for Myotonic Dystrophy May Look Like On average, people living with DM1 spend more than six years searching before they are correctly diagnosed, while those living with DM2 spend an average of over 10 years! Once the disorder is suspected, the next step is to confirm the diagnosis with genetic testing. This can be especially true for those who were the first in their family to be diagnosed. Symptoms of DM can also mimic more common diseases, which can lead to months – or even years – of medical testing to rule out other potential causes. Medical professionals meet patients with DM infrequently and are often not familiar with DM.
The path to a myotonic dystrophy (DM) diagnosis can be long and complex.
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