ZELLWEGERS SYNDROME Meaning and
Definition
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Zellwegers Syndrome, also known as Zellweger spectrum disorder (ZSD), is a rare and severe genetic disorder that falls under the category of peroxisomal biogenesis disorders (PBDs). It is an inherited condition characterized by the malfunction or absence of peroxisomes, cellular compartments responsible for various metabolic functions. This disorder is caused by mutations in the genes responsible for peroxisome assembly.
Individuals with Zellwegers Syndrome typically exhibit a range of symptoms that may vary in severity, including facial deformities, poor muscle tone, hearing and vision impairment, liver dysfunction, developmental delay, and intellectual disabilities. Additionally, they may experience seizures, feeding difficulties, and respiratory problems. The onset of symptoms is usually present at birth or becomes noticeable in early infancy.
Zellwegers Syndrome is a life-threatening condition with no known cure, and management primarily focuses on supportive care and treatment of associated symptoms. Various therapies, such as physical and occupational therapy, hearing and vision aids, and specialized diets, may be employed to improve the quality of life for affected individuals.
The prognosis for Zellwegers Syndrome is generally poor, with most individuals living only the first few years of life. However, advancements in medical knowledge and treatment options have led to improved life expectancy and quality of life for some affected individuals. Research towards finding a cure or more effective treatments is ongoing, giving hope for better outcomes in the future.
Common Misspellings for ZELLWEGERS SYNDROME
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Etymology of ZELLWEGERS SYNDROME
The term "Zellweger's syndrome" is named after the Swiss physician Hans Zellweger (1929-1994), who first described the condition in 1964. The syndrome is a rare, inherited, and often fatal disease characterized by the dysfunction of peroxisomes, which are cell organelles involved in various metabolic processes. While peroxisomal disorders were known before Zellweger's work, he made significant contributions to the understanding and classification of these disorders, including Zellweger's syndrome. Consequently, the medical community decided to honor his work by associating his name with this particular disorder.
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