06
Rare Diseases
Assessment of Rare Neurological Disorders
In rare diseases, the diagnostic process requires the child’s clinical findings, developmental characteristics, family history, and, when necessary, genetic testing to be evaluated together.
What Are Rare Diseases?
Rare diseases are conditions that occur less frequently in the population and in which genetic factors may play an important role. In childhood, rare neurological diseases may present with various symptoms, including neurological findings, developmental differences, epilepsy, movement disorders, or muscle weakness.
A detailed evaluation of the child’s clinical characteristics, assessment of family history, and planning of genetic or metabolic investigations when necessary are important in the diagnosis of these disorders.
The Diagnostic Process in Rare Diseases Can Take Time.
Many rare diseases can present with different neurological symptoms. Therefore, a comprehensive clinical evaluation and, when necessary, collaboration with specialists from different fields are important during the diagnostic process.
Clinical Evaluation
The child’s neurological findings, developmental characteristics, and medical history are evaluated in detail.
Family History
The presence of similar diseases, neurological findings occurring at an early age, and a family history of consanguinity are taken into consideration.
Genetic Assessment
Appropriate genetic tests and molecular analyses may be planned based on the clinical findings.
Other Necessary Investigations
Depending on the clinical presentation, imaging, metabolic investigations, or other diagnostic methods may be used.
Approach to Rare Neurological Disorders
The clinical findings and course of rare neurological disorders can vary considerably from one condition to another. Some disorders may present with epilepsy or developmental differences in early childhood, while others may manifest with movement disorders, muscle weakness, or other neurological findings.
In the diagnostic approach, considering clinical evaluation, genetic testing, and, when necessary, other laboratory or imaging methods together may contribute to understanding the underlying cause of the condition.
Scientific Research in Rare Diseases
Rare and undiagnosed diseases are an important area of Prof. Dr. Pınar Gençpınar’s academic research. In addition to studies evaluating genetic and neurological findings together, she participates in research on the molecular mechanisms and diagnostic processes of rare diseases.
2019
The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations
Pediatric Neurology
2025
Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye
Frontiers in Public Health
2026
Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations
Frontiers in Cell and Developmental Biology