From the Guidelines
Kearns-Sayre Syndrome is a rare mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction abnormalities, often resulting in stroke-like episodes due to cardiac embolism. The condition is typically diagnosed in children and young adults, and its symptoms can vary in severity. According to 1, stroke in Kearns-Sayre syndrome is likely caused by cardiac embolism, highlighting the importance of cardiac evaluation and management in these patients.
Some key features of Kearns-Sayre Syndrome include:
- Progressive external ophthalmoplegia
- Pigmentary retinopathy
- Cardiac conduction abnormalities
- Stroke-like episodes
- Onset typically before the age of 20 years
- Elevated cerebrospinal fluid protein levels
- Ragged-red fibers on muscle biopsy
Management of Kearns-Sayre Syndrome focuses on treating the underlying cardiac and neurological abnormalities, as well as preventing stroke-like episodes. This may involve:
- Cardiac evaluation and management, including pacemaker implantation
- Physical therapy to maintain mobility and independence
- Symptomatic treatment for stroke-like episodes, such as anticoagulation therapy
- Regular monitoring of disease progression with neurological exams, cardiac evaluations, and imaging studies.
From the Research
Definition and Overview of Rare Diseases
- Rare diseases are conditions that affect a small percentage of the population, with varying definitions across different countries and organizations 2.
- In China, a rare disease is defined as a condition with an incidence among newborns of less than 1/10,000, a prevalence of less than 1/10,000, or an affected population of less than 140,000 2.
- Rare diseases can be caused by genetic mutations, and next-generation sequencing (NGS) has become a powerful tool for diagnosing and characterizing these conditions 3.
Challenges in Diagnosing Rare Diseases
- Rare diseases often go undiagnosed or misdiagnosed due to their low prevalence and limited awareness among healthcare professionals 4.
- Electronic health record (EHR) data can facilitate research on rare diseases, but the coverage of rare disease names in standard terminologies is limited, making it challenging to identify patients with these conditions 5.