What is TK2D
TK2D is a devastating rare progressive genetic mitochondrial disease that affects a person's ability to eat, move and breathe. The earlier the age of onset, meaning when symptoms first start to occur, the more rapidly the disease progresses. The disease was first discovered in 2013 in adults and later on in 2001 for children. TK2D is often mistaken for other illnesses so genetic testing is critical for a diagnosis.
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The technical term for TK2D is Thymidine kinase 2 deficiency and it is categorized under the Mitochondrial DNA Depletion/Deletions Syndrome (MDS or MDDS). It is further classified as a myopathic form because it mainly affects all of the muscles in the body as they do not have enough energy to function properly. Below is an illustration showing the most common symptoms even though mitochondrial disease can affect people differently.
TK2d is inherited through an autosomal recessive pattern where both parents carry the copy of the mutated TK2 gene. There is a 25% chance that the gene will be rendered as ineffective causing the person to have TK2d.
The human body has over 600 muscles and because they can all be affected by this devastating disease, it often requires a multidisciplinary team of medical professionals to help manage the disease and quality of life. As illustrated below, life with TK2d can be tough, but there is hope.