Schindler disease

Schindler disease: Introduction

Schindler disease: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. The most severe form usually results in death within a few years of birth whereas the mild form doesn't cause symptoms until after the age of 30. The type and severity of symptoms varies depending on which form of the disease is involved. More detailed information about the symptoms, causes, and treatments of Schindler disease is available below.

Symptoms of Schindler disease

• Regression of physical skills attained - type I
• Regression of metnal skills attained - type I
• Progressive neurological symptoms - type I
• Muscle weakness - type I
• Impaired vision - type I
• more symptoms...»

See full list of 24 symptoms of Schindler disease

Treatments for Schindler disease

• There is no cure for Schindler disease and treatment is aimed at managing symptoms as they arise
• more treatments...»

Read more about treatments for Schindler disease

Schindler disease: Complications

Read more about complications of Schindler disease.

Causes of Schindler disease

Read more about causes of Schindler disease.

Evidence Based Medicine Research for Schindler disease

Medical research articles related to Schindler disease include:

• Lipid Storage Disorders (Treatment)
• Lipid Storage Disorders (Overview)
• Lipid Storage Disorders (Diagnosis)
• Lipid Storage Disorders (Follow-up)
• Lysosomal Storage Disease (Overview)
• more research...»

Click here to find more evidence-based articles on the TRIP Database

Research about Schindler disease

Visit our research pages for current research about Schindler disease treatments.

Schindler disease: Broader Related Topics

• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• more types...»

Types of Schindler disease

User Interactive Forums

Read about other experiences, ask a question about Schindler disease, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

Search Specialists by State and City