Glossary for Schindler disease

• Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
• Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
• Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
• Impaired vision: Reduced or degraded vision.
• Kanzaki disease: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
• Metabolic disorders: Disorders that affect the metabolic system in human
• Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
• Myoclonus: Sudden involuntary muscle twitching or movement.

Search Specialists by State and City