Thinking mitochondrial disease?
TK2d may be the diagnosis you're looking for
An estimated
1 IN 5,000
people have a mitochondrial disease, making it one of the most prevalent groups of inherited neurological disorders.1,2
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About TK2d
Thymidine kinase 2 deficiency (TK2d) is a rare and often fatal primary mitochondrial disease. It mainly manifests as myopathy (muscle disease)3
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Testing Programs
A diagnosis of a mitochondrial disease can only be confirmed through specific genetic tests. Early genetic testing can allow patients to seek the care they need1,4
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Resources
Connect with information and organizations that can provide support for patients and providers
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- Parikh S, Goldstein A, Koenig MK, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17(9):689-701. doi:10.1038/gim.2014.177
- Gorman GS, Schaefer AM, Ng Y, et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77(5):753-759. doi:10.1002/ana.24362
- Thymidine kinase 2 deficiency. National Organization for Rare Disorders. Updated March 4, 2025. Accessed March 25, 2025. https://rarediseases.org/rare-diseases/thymidine-kinase-2-deficiency/
- Nicolau S, Milone M, Liewluck T. Guidelines for genetic testing of muscle and neuromuscular junction disorders. Muscle Nerve. 2021;64(3):255-269. doi:10.1002/mus.27337
