Tag: neurological impairment
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Tuberous Sclerosis Complex
Discover the complexities of Tuberous Sclerosis Complex (TSC), a rare genetic disorder marked by non-cancerous tumors affecting various organs. This blog post delves into its causes, symptoms, diagnosis, and treatment options, while also addressing common myths and the importance of early intervention for improved quality of life. Learn about the resources available for individuals and…
Canavan Disease
Canavan Disease Definition and Description of Canavan Disease Canavan Disease is a rare genetic disorder categorized as a type of leukodystrophy, characterized by the progressive degeneration of the brain’s white matter. It occurs due to a deficiency of the enzyme aspartoacylase, which is essential for metabolizing N-acetyl aspartate (NAA), a compound found in myelin and…