Thymidine Kinase 2 Deficiency Epidemiology

• Thymidine Kinase 2 deficiency (TK2d) is a rare, life-threatening genetic disorder that primarily affects mitochondrial function due to mutations in the TK2 gene. This condition leads to a significant reduction in mitochondrial DNA (mtDNA), resulting in severe muscle weakness and other systemic complications.
• TK2d was first described in 2001 in four children with severe muscle disease. All patients described have some degree of muscle weakness, but the severity, age of onset, and disease progression vary from person to person.
• TK2d is diagnosed through symptoms, patient history, clinical exam, and laboratory and genetic tests. Genetic testing for mutations in the TK2 gene confirms the diagnosis. Elevated creatine kinase levels and electromyography showing myopathic changes can support the diagnosis. Genetic counseling is recommended for affected individuals and their families.
• In 2023, the United States represented around 50% of the total prevalent cases of TK2d in the 7MM, the highest among them.
• In 2023, the United States had the highest number of treated TK2d cases in the 7MM, with approximately 350 cases, followed by Germany with around 90 cases. These numbers are expected to rise during the forecast period.

DelveInsight’s “Thymidine Kinase 2 deficiency (TK2d) – Epidemiology Forecast – 2034” report delivers an in-depth understanding of Thymidine Kinase 2 deficiency (TK2d), historical and forecasted epidemiology in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The table given below further depicts the key segments provided in the report:

Thymidine Kinase 2 deficiency (TK2d) Understanding and Diagnosis Algorithm

Thymidine Kinase 2 deficiency (TK2d) Overview

Thymidine Kinase 2 deficiency is a rare autosomal recessive disorder caused by mutations in the TK2 gene, which is crucial for mitochondrial DNA (mtDNA) maintenance. This condition leads to a significant reduction in mtDNA, resulting in progressive muscle weakness and various systemic complications. Patients often present with symptoms such as weakness in the limbs, respiratory difficulties, and issues with eye movement and swallowing. The severity and progression of the disease can vary widely among individuals, with some experiencing early onset and rapid decline, while others may have a later onset with a slower progression.

Further details are provided in the report…

Thymidine Kinase 2 deficiency (TK2d) Diagnosis

Diagnosis of TK2d typically involves a combination of genetic testing and clinical evaluations. Genetic testing is conducted to identify mutations in the TK2 gene, confirming the diagnosis. In addition to genetic analysis, clinicians may perform muscle biopsies to assess for signs of mitochondrial myopathies, such as ragged red fibers or abnormal mitochondria under microscopic examination. The comprehensive evaluation of symptoms alongside these diagnostic methods helps to establish a clear diagnosis and differentiate TK2d from other mitochondrial disorders.

Further details related to country-based variations are provided in the report…

Thymidine Kinase 2 deficiency (TK2d) Epidemiology

The Thymidine Kinase 2 deficiency epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by Total Prevalent Cases, Total Diagnosed Prevalent Cases, Gender-specific Cases, Phenotype-specific Cases, and Treated Cases of Thymidine Kinase 2 deficiency in the United States, EU4 countries (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2021 to 2034. 

• Among the 7MM, the United States accounted for the highest number of cases of Thymidine Kinase 2 deficiency in 2023, with nearly 560 cases. These cases are anticipated to increase by 2034.
• In 2023, the United States reported the highest number of infantile-onset myopathy cases of TK2d, with ~150 cases, followed by childhood-onset myopathy and late-onset myopathy cases, with ~140 and ~60 cases, respectively. 
• In 2023, Gender-specific cases of TK2d in the United States were ~160 and ~200 for women and men, respectively.
• Among EU4 and the UK, Germany accounted for the highest number of total prevalent cases in 2023, with approximately 150 cases.

Scope of the Report

• The report covers a segment of key events, an executive summary, and a descriptive overview of Thymidine Kinase 2 deficiency (TK2d), explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, and disease progression have been provided.
• A detailed review of current challenges in establishing diagnosis and diagnosis rate is provided.

Thymidine Kinase 2 deficiency (TK2d) Report Insights

• Patient Population
• Total Prevalent Cases, Total Diagnosed Prevalent Cases, Gender-specific Cases, Phenotype-specific Cases, and Treated Cases of Thymidine Kinase 2 deficiency
• Country-wise Epidemiology Distribution

Thymidine Kinase 2 deficiency (TK2d) Report Key Strengths

• Eleven-year Forecast
• The 7MM Coverage 
• Thymidine Kinase 2 deficiency (TK2d) Epidemiology Segmentation

Thymidine Kinase 2 deficiency (TK2d) Report Assessment

• Epidemiology Segmentation
• Current Diagnostic Practices

FAQs

Epidemiology Insights

• What are the disease risks, burdens, and unmet needs of Thymidine Kinase 2 deficiency (TK2d)? What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Thymidine Kinase 2 deficiency (TK2d)?
• What is the historical and forecasted Thymidine Kinase 2 deficiency (TK2d) patient pool in the United States, EU4 (Germany, France, Italy, Spain) and the United Kingdom, and Japan?
• What is the diagnostic pattern of Thymidine Kinase 2 deficiency (TK2d)?
• Which clinical factors will affect Thymidine Kinase 2 deficiency (TK2d)?
• Which factors will affect the increase in the diagnosis of Thymidine Kinase 2 deficiency (TK2d)?

Reasons to buy

• Insights on disease burden, details regarding diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the change in Thymidine Kinase 2 deficiency (TK2d) cases in varying geographies over the coming years.
• A detailed overview of Total Prevalent Cases, Total Diagnosed Prevalent Cases, Gender-specific Cases, Phenotype-specific Cases, and Treated Cases of Thymidine Kinase 2 deficiency is included.
• To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis and insights on the treatment-eligible patient pool.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.