Schindler disease
Schindler Disease
Schindler disease (pronounced: shin-dler di-zeez) is a rare, inherited metabolic disorder. It is named after the German pediatrician, Dr. Konrad Schindler, who first described the condition in 1987.
Etymology
The term "Schindler disease" is derived from the name of the doctor who first identified the condition. The word "disease" comes from the Old French desaise, meaning "lack of ease".
Definition
Schindler disease is characterized by the deficiency of the enzyme alpha-N-acetylgalactosaminidase (also known as NAGA), which is involved in the breakdown of certain sugars in the body. This deficiency leads to the accumulation of these sugars in various tissues and organs, causing a range of symptoms.
Types
There are three types of Schindler disease, classified based on the age of onset and severity of symptoms:
- Type 1: Also known as Infantile Schindler disease, it is the most severe form and symptoms appear in infancy.
- Type 2: Also known as Juvenile Schindler disease, symptoms appear in early childhood.
- Type 3: Also known as Adult Schindler disease, it is the mildest form and symptoms appear in adulthood.
Symptoms
Symptoms of Schindler disease vary widely and can include developmental delay, seizures, vision problems, and problems with movement. The severity and progression of symptoms depend on the type of Schindler disease.
Diagnosis
Diagnosis of Schindler disease is based on the clinical symptoms, biochemical tests showing a deficiency of the NAGA enzyme, and genetic testing confirming mutations in the NAGA gene.
Treatment
There is currently no cure for Schindler disease. Treatment is supportive and aims to manage symptoms and improve the quality of life.
Prognosis
The prognosis for individuals with Schindler disease varies depending on the type of the disease. Type 1 is typically fatal in early childhood, while individuals with Type 2 and Type 3 can live into adulthood with varying degrees of disability.
External links
- Medical encyclopedia article on Schindler disease
- Wikipedia's article - Schindler disease
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