If you're just learning about TK2d, you may be feeling overwhelmed and unsure of the future. You probably have lots of questions, and genetic testing may give you some answers.
Genetic testing is the most direct way to find out if you have TK2d. Early genetic testing can confirm a diagnosis, help patients seek the care they need, and allow them to enroll in available clinical trials.
If you're just learning about TK2d, you may be feeling overwhelmed and unsure of the future. You probably have lots of questions, and genetic testing may give you some ansers.
Genetic testing is the most direct way to find out if you have TK2d. Early genetic testing can confirm a diagnosis, help patients seek the care they need, and allow them to enroll in available clinical trials.
TK2d is a genetic mitochondrial disease that can have a serious impact on a person's health and quality of life. To best understand TK2d, there are some things about the body that you need to know first.
TK2d is a myopathic form of mitochondrial disease, meaning it affects muscles. It is also a type of mitochondrial disease called mtDNA depletion syndrome (MDS or MDDS).
Thymidine kinase 2 (TK2) is an enzyme that helps make and maintain your mtDNA. When you have a healthy and normal amount of mtDNA, the mitochondria are able to create and provide energy for your body and its functions.
TK2d is an enzyme deficiency, meaning there are not enough TK2 enzymes available to help make and repair your mtDNA. Because there isn’t enough healthy mtDNA, the mitochondria cannot work the way they should. This means muscles don’t have enough energy and cannot function properly. This can lead to weakness in many muscle groups.
Because the genetic testing that finds TK2d is so new, and there are many other diseases with symptoms like those of TK2d, it is thought that there are many more people with TK2d who have not been properly diagnosed.
TK2d is defined by severe muscle weakness (called myopathy) and can affect life in a range of ways. Many patients lose the ability to walk, eat, and breathe independently. Tragically, it is also often life-threatening.
Because TK2d is a disease with many symptoms, diagnosing TK2d can be a long journey. It can take multiple visits to health care providers to get a confirmed TK2d diagnosis.
However, if you suspect TK2d, genetic testing is the most direct path to a diagnosis.
Symptoms can progress slowly or quickly, depending on the patient and age of onset. Generally, the earlier in life symptoms start, the more severe they are and the quicker they progress.
Young children often have a healthy birth and reach early developmental milestones. Shortly after, they may experience:
Teens and adults often have less severe symptoms that do not progress as quickly as early onset TK2d, including:
Teens and adults often have less severe symptoms that do not progress as quickly as early onset TK2d, including:
If you or a loved one has several of the symptoms listed above and you suspect TK2d, there are no-cost genetic testing options to help with a diagnosis. And with each new diagnosis, we can discover more about TK2d.
Symptoms of TK2d begin to appear early in life for many patients, but TK2d can sometimes develop in teens and adults, too.
TK2d is an inherited disease caused by a genetic mutation in the TK2 gene. Both the mother and father (called “carriers”) must have a copy of the altered TK2 gene for a child to get TK2d. This is called an autosomal recessive inheritance pattern.
When both parents are carriers of the TK2 gene, each child will have a 25% chance of having TK2d, a 50% chance of being an unaffected carrier, and a 25% chance of not having TK2d and not being a carrier.
The mother and father who pass on TK2d will usually not have any signs or symptoms of the disease. That is one reason why getting a diagnosis can be hard for someone who inherits TK2d.
If you or a loved one has been diagnosed with TK2d, you should also talk to your doctor about how to learn if siblings or other family members may be carriers.
While TK2d can often have serious or even life-threatening consequences, there are several ways that doctors can help manage the symptoms of TK2d to try to limit its impact. They may use medical equipment and therapies such as:
Caring for someone with TK2d usually involves a multidisciplinary team that includes a physical therapist to help keep muscles functioning and other specialists as needed (eg, a pulmonologist to manage breathing problems). A multidisciplinary team may include:
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We’ll keep you motivated and informed about the future of mitochondrial disease, TK2d, and treatment. In the meantime, there’s more to learn: