How is Schindler disease diagnosed?
See how Schindler disease is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Schindler disease
Schindler disease, also known as Kanzaki disease, is a rare genetic disorder that affects the nervous system. It is caused by mutations in the NAGA gene, which leads to a deficiency of the enzyme alpha-N-acetylgalactosaminidase.
Diagnosing Schindler disease can be challenging due to its rarity and the variability of symptoms. However, there are several diagnostic methods that can be used to identify the disease:
Clinical Evaluation: A thorough evaluation of the patient's medical history and physical examination is the first step in diagnosing Schindler disease. The doctor will look for symptoms such as developmental delay, intellectual disability, seizures, muscle weakness, and other neurological abnormalities.
Enzyme Assay: A key diagnostic test for Schindler disease is measuring the activity of alpha-N-acetylgalactosaminidase in the patient's blood or other tissues. This can be done using a laboratory assay that detects the enzyme's activity. A deficiency in enzyme activity is indicative of Schindler disease.
Genetic Testing: Genetic testing plays a crucial role in confirming the diagnosis of Schindler disease. It involves analyzing the patient's DNA for mutations in the NAGA gene. This can be done through various methods, such as DNA sequencing or targeted mutation analysis. Identifying specific mutations in the NAGA gene confirms the presence of Schindler disease.
Other Tests: Additional tests may be performed to assess the extent of organ involvement and to rule out other conditions with similar symptoms. These may include brain imaging (MRI or CT scan), electroencephalogram (EEG) to evaluate brain activity, and other specialized tests based on the individual's symptoms.
It is important to consult with a medical professional experienced in genetic disorders to ensure accurate diagnosis and appropriate management of Schindler disease. Early diagnosis can help in implementing appropriate treatment strategies and providing necessary support to individuals and their families.
