Mitochondrial Myopathies - Epidemiology Forecast - 2034
Description
Key Highlights
Mitochondrial diseases have a reported prevalence 8–9 times higher in Western datasets compared to Japan’s estimates based on the National Database (NDB). This difference is unlikely to reflect biological factors and more likely results from systematic under-detection in Japan, attributed to lower clinical suspicion, fewer specialist centers per capita, and historically limited access to genetic testing.
The true prevalence of mitochondrial myopathies may be underestimated due to variable clinical definitions and incomplete muscle biopsy confirmation.
The main mitochondrial diseases (including myopathies) include include Chronic Progressive External Ophthalmoplegia (CPEO), Primary Coenzyme Q10 Deficiency, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), Myoclonic Epilepsy with Ragged-Red Fibers (MERRF), Kearns-Sayre Syndrome (KSS), Thymidine Kinase 2 Deficiency (TK2d), Barth Syndrome, Pyruvate Dehydrogenase Complex Deficiency (PDCD), and Leigh Syndrome.
Molecular diagnostic tools such as Next-generation Sequencing (NGS) and Polymerase Chain Reaction (PCR) now play a crucial role in identifying the genetic basis of mitochondrial myopathies, enabling earlier and more accurate diagnoses.
The total prevalent cases of mitochondrial diseases in the 7MM were ~176,400 in 2024, out of which the highest prevalent cases of this disease were in the United States.
The age-specific prevalent cases of mitochondrial myopathies in the 7MM were majorly contributed by age group = 18 years with almost ~21,200 cases, compared to age group more than 18 years in 2024.
Around 65% of mitochondrial myopathy cases are due to mtDNA mutations, with nDNA mutations accounting for the remaining 35%, reflecting a clear genetic trend in the US.
In the US, MELAS exhibit the highest prevalence among mitochondrial myopathies, while TK2d are among the least prevalent, highlighting significant variability across subtypes.
Among EU4, Germany accounted for the largest number of diagnosed prevalent cases of mitochondrial myopathies followed by the UK, whereas Spain accounted for the lowest cases in 2024.
DelveInsight’s “Mitochondrial Myopathies – Epidemiology Forecast – 2034” report delivers an in-depth understanding of mitochondrial myopathies, historical and forecasted epidemiology in the United States, EU4 (Germany, France, Italy, and Spain), and the United Kingdom, and Japan.
Geography Covered
The United States
EU4 (Germany, France, Italy, and Spain) and the United Kingdom
Japan
Study Period: 2020–2034
Mitochondrial Myopathies Understanding
Mitochondrial Myopathies Overview
Mitochondrial myopathies are progressive muscle disorders primarily resulting from impaired oxidative phosphorylation (OXPHOS) within the mitochondria. This dysfunction leads to reduced ATP production, especially affecting skeletal muscle, where energy demand is high. Mitochondria contain their genetic material, mitochondrial DNA (mtDNA). However, the mitochondrial function is also under the control of the nuclear or autosomal DNA, i.e, nDNA, which regulates the maintenance of mtDNA, the mitochondrial protein synthesis, and the synthesis and function of the respiratory chain complexes and cofactors. Mitochondrial myopathies can be triggered or worsened by factors such as genetic mutations, aging, infections, lack of physical activity, obesity, or as a secondary symptom of other underlying conditions. Mitochondrial myopathies present with a wide range of symptoms, commonly including muscle weakness, early fatigue, and exertional intolerance, which significantly impact daily functioning. Additional manifestations may involve ptosis (drooping eyelids), seizures, and stroke-like episodes, reflecting the disorder’s effect on multiple systems. In more severe cases, patients may also experience stunted growth and liver failure, underscoring the progressive and multisystemic nature of the disease.
Mitochondrial myopathies include diverse syndromes like Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), Myoclonus Epilepsy with Ragged Red Fibers (MERRF), Leigh syndrome, Kearns-Sayre Syndrome (KSS), and others, each with distinct genetic causes.
Mitochondrial Myopathies Diagnosis
Diagnosing mitochondrial myopathies requires a systematic, individualized approach combining clinical, biochemical, genetic, and histological assessments. Initial evaluations include symptom-based testing such as CK, lactate levels, EMG, MRI, cardiac and endocrine evaluations, and CNS imaging if relevant. These help identify affected organ systems but are not disease-specific. Genetic testing using next-generation sequencing (NGS) is the preferred diagnostic tool, capable of detecting mtDNA and nDNA mutations. While it reduces the need for biopsies, variants of unknown significance (VUS) may require further testing, including muscle biopsy. Muscle biopsy remains valuable, especially when blood or buccal samples are inconclusive, as it can reveal ragged-red fibers, COX-negative fibers, and mtDNA deletions more readily. EMG may assist in excluding mimics, while exercise testing (e.g., cycle ergometry, aerobic forearm test) can assess mitochondrial function and help when genetic results are ambiguous.
Further details related to diagnosis will be provided in the report…
Mitochondrial Myopathies Epidemiology
The mitochondrial myopathies epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented total prevalent cases of mitochondrial diseases, total prevalent cases of mitochondrial myopathies, total prevalent cases of specific types of mitochondrial diseases (including myopathies), mutation-specific prevalent cases of mitochondrial myopathies, age-specific prevalent cases of mitochondrial myopathies, total treated cases of mitochondrial diseases (including myopathies), total treated cases of mitochondrial myopathies in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), United Kingdom, and Japan from 2020 to 2034.
The total number of prevalent cases of mitochondrial diseases in the 7MM ranges from ~176,400 in 2024.
The total number of prevalent cases of mitochondrial myopathies in the 7MM ranges from ~63,200 in 2024.
The total number of treated cases of mitochondrial myopathies in Japan is projected to reach from ~3,000 in 2024.
The US contributed to the largest prevalent population of mitochondrial myopathies, acquiring ~50% of the 7MM in 2024. Whereas EU4 and the UK, and Japan accounted for the remaining total population share in 2024.
According to DelveInsight estimates, in 2024, among the mutation-specific prevalent cases of mitochondrial myopathies in the US, the highest number of cases was in the mDNA (~19,100), while the lowest number of cases was seen in nDNA.
In Japan, the age specific prevalent cases of mitochondrial myopathies were more in =18 years age group (~2,800) then >18 years in 2024.
In the US, MELAS and Leigh Syndrome have the highest number of reported cases among mitochondrial myopathies, while TK2d accounted for the lowest number of cases, reflecting the rarity and variability of these subtypes.
Mitochondrial Myopathies Report Insights
Mitochondrial Myopathies Report Insights
Patient population
Country-wise epidemiology distribution
Mitochondrial Myopathies Report Key Strengths
Ten years forecast
7MM coverage
Mitochondrial myopathies epidemiology segmentation
FAQs
What are the disease risks, burdens, and unmet needs of mitochondrial myopathies? What will be the growth opportunities across the 7MM concerning the patient population with mitochondrial myopathies?
What is the historical and forecasted mitochondrial myopathies patient pool in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?
Reasons to Buy
Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
To understand key opinion leaders’ perspectives around the diagnostic challenges to overcome barriers in the future.
Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.
Mitochondrial diseases have a reported prevalence 8–9 times higher in Western datasets compared to Japan’s estimates based on the National Database (NDB). This difference is unlikely to reflect biological factors and more likely results from systematic under-detection in Japan, attributed to lower clinical suspicion, fewer specialist centers per capita, and historically limited access to genetic testing.
The true prevalence of mitochondrial myopathies may be underestimated due to variable clinical definitions and incomplete muscle biopsy confirmation.
The main mitochondrial diseases (including myopathies) include include Chronic Progressive External Ophthalmoplegia (CPEO), Primary Coenzyme Q10 Deficiency, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), Myoclonic Epilepsy with Ragged-Red Fibers (MERRF), Kearns-Sayre Syndrome (KSS), Thymidine Kinase 2 Deficiency (TK2d), Barth Syndrome, Pyruvate Dehydrogenase Complex Deficiency (PDCD), and Leigh Syndrome.
Molecular diagnostic tools such as Next-generation Sequencing (NGS) and Polymerase Chain Reaction (PCR) now play a crucial role in identifying the genetic basis of mitochondrial myopathies, enabling earlier and more accurate diagnoses.
The total prevalent cases of mitochondrial diseases in the 7MM were ~176,400 in 2024, out of which the highest prevalent cases of this disease were in the United States.
The age-specific prevalent cases of mitochondrial myopathies in the 7MM were majorly contributed by age group = 18 years with almost ~21,200 cases, compared to age group more than 18 years in 2024.
Around 65% of mitochondrial myopathy cases are due to mtDNA mutations, with nDNA mutations accounting for the remaining 35%, reflecting a clear genetic trend in the US.
In the US, MELAS exhibit the highest prevalence among mitochondrial myopathies, while TK2d are among the least prevalent, highlighting significant variability across subtypes.
Among EU4, Germany accounted for the largest number of diagnosed prevalent cases of mitochondrial myopathies followed by the UK, whereas Spain accounted for the lowest cases in 2024.
DelveInsight’s “Mitochondrial Myopathies – Epidemiology Forecast – 2034” report delivers an in-depth understanding of mitochondrial myopathies, historical and forecasted epidemiology in the United States, EU4 (Germany, France, Italy, and Spain), and the United Kingdom, and Japan.
Geography Covered
The United States
EU4 (Germany, France, Italy, and Spain) and the United Kingdom
Japan
Study Period: 2020–2034
Mitochondrial Myopathies Understanding
Mitochondrial Myopathies Overview
Mitochondrial myopathies are progressive muscle disorders primarily resulting from impaired oxidative phosphorylation (OXPHOS) within the mitochondria. This dysfunction leads to reduced ATP production, especially affecting skeletal muscle, where energy demand is high. Mitochondria contain their genetic material, mitochondrial DNA (mtDNA). However, the mitochondrial function is also under the control of the nuclear or autosomal DNA, i.e, nDNA, which regulates the maintenance of mtDNA, the mitochondrial protein synthesis, and the synthesis and function of the respiratory chain complexes and cofactors. Mitochondrial myopathies can be triggered or worsened by factors such as genetic mutations, aging, infections, lack of physical activity, obesity, or as a secondary symptom of other underlying conditions. Mitochondrial myopathies present with a wide range of symptoms, commonly including muscle weakness, early fatigue, and exertional intolerance, which significantly impact daily functioning. Additional manifestations may involve ptosis (drooping eyelids), seizures, and stroke-like episodes, reflecting the disorder’s effect on multiple systems. In more severe cases, patients may also experience stunted growth and liver failure, underscoring the progressive and multisystemic nature of the disease.
Mitochondrial myopathies include diverse syndromes like Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), Myoclonus Epilepsy with Ragged Red Fibers (MERRF), Leigh syndrome, Kearns-Sayre Syndrome (KSS), and others, each with distinct genetic causes.
Mitochondrial Myopathies Diagnosis
Diagnosing mitochondrial myopathies requires a systematic, individualized approach combining clinical, biochemical, genetic, and histological assessments. Initial evaluations include symptom-based testing such as CK, lactate levels, EMG, MRI, cardiac and endocrine evaluations, and CNS imaging if relevant. These help identify affected organ systems but are not disease-specific. Genetic testing using next-generation sequencing (NGS) is the preferred diagnostic tool, capable of detecting mtDNA and nDNA mutations. While it reduces the need for biopsies, variants of unknown significance (VUS) may require further testing, including muscle biopsy. Muscle biopsy remains valuable, especially when blood or buccal samples are inconclusive, as it can reveal ragged-red fibers, COX-negative fibers, and mtDNA deletions more readily. EMG may assist in excluding mimics, while exercise testing (e.g., cycle ergometry, aerobic forearm test) can assess mitochondrial function and help when genetic results are ambiguous.
Further details related to diagnosis will be provided in the report…
Mitochondrial Myopathies Epidemiology
The mitochondrial myopathies epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented total prevalent cases of mitochondrial diseases, total prevalent cases of mitochondrial myopathies, total prevalent cases of specific types of mitochondrial diseases (including myopathies), mutation-specific prevalent cases of mitochondrial myopathies, age-specific prevalent cases of mitochondrial myopathies, total treated cases of mitochondrial diseases (including myopathies), total treated cases of mitochondrial myopathies in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain), United Kingdom, and Japan from 2020 to 2034.
The total number of prevalent cases of mitochondrial diseases in the 7MM ranges from ~176,400 in 2024.
The total number of prevalent cases of mitochondrial myopathies in the 7MM ranges from ~63,200 in 2024.
The total number of treated cases of mitochondrial myopathies in Japan is projected to reach from ~3,000 in 2024.
The US contributed to the largest prevalent population of mitochondrial myopathies, acquiring ~50% of the 7MM in 2024. Whereas EU4 and the UK, and Japan accounted for the remaining total population share in 2024.
According to DelveInsight estimates, in 2024, among the mutation-specific prevalent cases of mitochondrial myopathies in the US, the highest number of cases was in the mDNA (~19,100), while the lowest number of cases was seen in nDNA.
In Japan, the age specific prevalent cases of mitochondrial myopathies were more in =18 years age group (~2,800) then >18 years in 2024.
In the US, MELAS and Leigh Syndrome have the highest number of reported cases among mitochondrial myopathies, while TK2d accounted for the lowest number of cases, reflecting the rarity and variability of these subtypes.
Mitochondrial Myopathies Report Insights
Mitochondrial Myopathies Report Insights
Patient population
Country-wise epidemiology distribution
Mitochondrial Myopathies Report Key Strengths
Ten years forecast
7MM coverage
Mitochondrial myopathies epidemiology segmentation
FAQs
What are the disease risks, burdens, and unmet needs of mitochondrial myopathies? What will be the growth opportunities across the 7MM concerning the patient population with mitochondrial myopathies?
What is the historical and forecasted mitochondrial myopathies patient pool in the US, EU4 (Germany, France, Italy, and Spain), the UK, and Japan?
Reasons to Buy
Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
To understand key opinion leaders’ perspectives around the diagnostic challenges to overcome barriers in the future.
Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.
Table of Contents
116 Pages
- 1. Key Insights
- 2. Report Introduction
- 3. Executive Summary
- 4. Key Events
- 4.1. Upcoming Key Catalysts
- 4.2. Key Conference and Meeting Insights
- 4.3. Key Transactions and Collaborations
- 4.4. News Flow
- 5. Epidemiology Forecast Methodology
- 6. Mitochondrial Myopathies Epidemiology Overview at a Glance
- 6.2. Patient Share (%) Distribution Mitochondrial Myopathies by Countries (%) in the 7MM in 2024
- 6.3. Patient Share (%) Distribution Mitochondrial Myopathies by Countries (%) in the 7MM in 2034
- 7. Disease Background and Overview
- 7.1. Introduction
- 7.2. Factors Associated With Mitochondrial Myopathies
- 7.3. Symptoms
- 7.4. Types of Mitochondrial Myopathies
- 7.4.1. KSS
- 7.4.2. MELAS
- 7.4.3. MERRF
- 7.4.4. CPEO
- 7.4.5. CoQ10 Deficiencies
- 7.4.6. TK2d
- 7.4.7. Leigh’s Syndrome
- 7.5. Etiology and Pathophysiology of Mitochondrial Myopathy
- 7.6. Diagnostic Evaluation of Mitochondrial Myopathy
- 7.6.1. Diagnosis Algorithm
- 7.7. Guidelines, Recommendations, and Management for Mitochondrial Myopathy
- 7.7.1. United Mitochondrial Disease Foundation (UMDF): International Patient Care Standards for Primary Mitochondrial Disease (2017)
- 7.7.2. Association for Clinical Genomic Science (ACGS) Guidelines for the Molecular Diagnosis of Mitochondrial Disease (2020)
- 7.7.3. MHLW Guidelines and Diagnostic Criteria (2020)
- 8. Epidemiology and Patient Population
- 8.1. Key Findings
- 8.2. Assumptions and Rationales
- 8.3. Total Prevalent Cases of Mitochondrial Myopathies in the 7MM
- 8.4. Total Treated Cases of Mitochondrial Diseases (Including Myopathies) in the 7MM
- 8.5. Total Treated Cases of Mitochondrial Myopathies in the 7MM
- 8.6. The United States
- 8.6.1. Total Prevalent Cases of Mitochondrial Diseases in the US
- 8.6.2. Total Prevalent Cases of Mitochondrial Myopathies in the US
- 8.6.3. Total Prevalent Cases of Specific Types of Mitochondrial Diseases (Including Myopathies) in the US
- 8.6.4. Mutation-specific Prevalent Cases of Mitochondrial Myopathies in the US
- 8.6.5. Age-specific Prevalent Cases of Mitochondrial Myopathies in the US
- 8.7. EU4 and the UK
- 8.7.1. Total Prevalent Cases of Mitochondrial Diseases in EU4 and the UK
- 8.7.2. Total Prevalent Cases of Mitochondrial Myopathies in EU4 and the UK
- 8.7.3. Total Prevalent Cases of Specific Types of Mitochondrial Diseases (Including Myopathies) in EU4 and the UK
- 8.7.4. Mutation-specific Prevalent Cases of Mitochondrial Myopathies in EU4 and the UK
- 8.7.5. Age-specific Prevalent Cases of Mitochondrial Myopathies in EU4 and the UK
- 8.8. Japan
- 8.8.1. Total Prevalent Cases of Mitochondrial Diseases in Japan
- 8.8.2. Total Prevalent Cases of Mitochondrial Myopathies in Japan
- 8.8.3. Total Prevalent Cases of Specific Types of Mitochondrial Diseases (Including Myopathies) in Japan
- 8.8.4. Mutation-specific Prevalent Cases of Mitochondrial Myopathies in Japan
- 8.8.5. Age-specific Prevalent Cases of Mitochondrial Myopathies in Japan
- 9. Appendix
- 9.1. Bibliography
- 9.2. Report Methodology
- 10. DelveInsight Capabilities
- 11. Disclaimer
- 12. About DelveInsight
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