Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
The documentation for autosomal dominant mitochondrial myopathy with exercise intolerance is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 people. This rarity restricts the number of systematic clinical studies and comprehensive data collection, making it challenging to fully characterize the disease. Additionally, the genetic basis was only recently identified, and ongoing research is necessary to better understand its clinical implications.
The key clinical features of autosomal dominant mitochondrial myopathy with exercise intolerance include significantly reduced activity of mitochondrial complexes II, III, and IV, which are critical for cellular energy metabolism. Patients typically experience exercise intolerance, which may manifest as fatigue or muscle weakness during physical activity. Due to the rarity of this condition, specific case reports detailing the range of symptoms are limited.
To navigate your care effectively, consider consulting with a neurologist who specializes in mitochondrial disorders or hereditary myopathies. Genetic counseling may also be beneficial for understanding the implications of the CHCHD10 gene variants and discussing family planning options. Although there are no specific patient organizations identified for this condition, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information about rare diseases. Engaging in clinical trials may also provide valuable insights and connections.
Currently, there are no orphan drugs designated for autosomal dominant mitochondrial myopathy with exercise intolerance. However, there is one active clinical trial exploring potential treatment avenues. For more information about this trial, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=autosomal%20dominant%20mitochondrial%20myopathy%20with%20exercise%20intolerance. Participation in clinical trials may provide access to new therapies and contribute to the understanding of this rare condition.
Actionable guidance for navigating care for autosomal dominant mitochondrial myopathy with exercise intolerance
To navigate your care effectively, consider consulting with a neurologist who specializes in mitochondrial disorders or hereditary myopathies. Genetic counseling may also be beneficial for understanding the implications of the CHCHD10 gene variants and discussing family planning options. Although there are no specific patient organizations identified for this condition, you can explore resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information about rare diseases. Engaging in clinical trials may also provide valuable insights and connections.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.