Mar 4, 2025 · Thymidine kinase 2 deficiency (TK2D), also known as “mitochondrial DNA depletion syndrome, myopathic form” or “mitochondrial DNA depletion syndrome-2”, is a rare genetic disorder that mainly affects the muscles.

Thymidine Kinase 2 deficiency (TK2d) is a rare, life-threatening, genetic mitochondrial disease characterized by progressive and severe muscle weakness (myopathy), which can impact the ability to walk, eat, and breathe independently. 1,2,3,4,5

Jan 28, 2022 · The most efficient and effective means to a TK2d diagnosis is genetic testing. Patient voices and caregiver perspectives provided by individuals and families with TK2d offer invaluable insights into the day-to-day challenges and related symptom experiences of this ultra-rare disease. Patient Perspectives

TK2d is caused by a genetic mutation in the TK2 gene.1,4 This mutation leads to a decrease in mitochondrial DNA production.1,4 Mitochondria generate most of the energy that powers our cells. Errors in mitochondrial DNA can lead to insuƒcient energy, and as a result, muscles and organs can’t function properly.4,5,6 How many people have TK2d?

TK2d is an ultrarare autosomal recessive mitochondrial DNA depletion syndrome. Nucleoside therapy improves or stabilizes disease across key outcomes including survival, ambulation, and requirement for mechanical ventilation.

Support and information about thymidine kinase 2 deficiency (TK2d), what is TK2d, TK2d symptoms, causes of TK2d, and no-cost genetic tests to help diagnose TK2d.

Jan 20, 2022 · Thymidine kinase 2 deficiency (TK2d) is an ultrarare autosomal recessive mitochondrial DNA (mtDNA) depletion and multiple deletions syndrome [1] characterized by axial and proximal muscle weakness, dysphagia, and respiratory failure, leading to premature death in most patients [2–6].

Autosomal recessive TK2 mutations cause TK2 deficiency (TK2d), a rare mitochondrial disease that manifests primarily as a myopathy. Because of its rarity, most clinicians are not aware of this disease.

Jul 5, 2024 · Thymidine Kinase 2 Deficiency, also known as TK2D, is a rare mitochondrial condition. TK2D causes at least one part of the body to have low levels of mitochondrial DNA (mtDNA). Conditions that cause low levels of mtDNA, including TK2D, are sometimes called mitochondrial depletion syndromes.

Mar 25, 2024 · Objectives: Thymidine kinase 2 deficiency (TK2d) is a rare autosomal recessive disorder that stems from a perturbation of the mitochondrial DNA maintenance. Nucleoside treatment has recently shown promise as a disease-modifying therapy.