Rare Genetic Diseases: Diagnosis and Treatment Problems
Rare genetic diseases affect a small patient population worldwide. They are conditions that have a genetic basis and often lead to serious health problems. In this article, we will discuss the difficulties encountered in the diagnosis and treatment of rare genetic diseases. We will examine the progress in this field. Diagnosing and treating rare genetic diseases can be a huge challenge for both patients and healthcare professionals.
I. Diagnostic Challenges
Heterogeneity:
Rare genetic diseases have great heterogeneity. The fact that the same disease can occur with different symptoms in different individuals complicates accurate diagnosis.
Diagnostic Delays:
Symptoms of rare diseases can often be confused with symptoms of other common diseases. Therefore, long periods may be...