Friedreich’s Ataxia (FA): Understanding the Genetic Disorder Friedreich’s Ataxia (FA) is a rare, inherited neurodegenerative disorder that primarily affects the nervous system and the heart. Named after the German physician Nikolaus Friedreich, who first described the condition in the 1860s, FA is characterized by progressive damage to the spinal cord and peripheral nerves, leading to…
Angelman Syndrome (AS) is a rare neurogenetic disorder that primarily affects the nervous system. Named after British pediatrician Dr. Harry Angelman, who first described it in 1965, this condition is characterized by developmental delays, neurological problems, and unique physical and behavioral traits. It is estimated to occur in 1 in 12,000 to 20,000 live births….
Chromosomal abnormalities in children refer to variations or disruptions in the number or structure of chromosomes, which are the genetic materials responsible for carrying the instructions necessary for the proper development and function of the body. These abnormalities can occur during the formation of sperm or egg cells, during fertilization, or in the early stages…
Inborn errors of metabolism (IEM) are a group of rare genetic disorders that affect the body’s ability to convert food into energy or to process specific substances within cells. These disorders are typically caused by mutations in genes responsible for enzymes or other proteins involved in metabolic pathways. IEM can manifest at any age, including…
Genetic syndromes in children are a group of disorders caused by abnormal or mutated genes. These syndromes often result in a combination of physical, developmental, and intellectual characteristics that are distinct from typical development. They can vary widely in their impact, severity, and symptoms. Here are some examples of genetic syndromes in children: It’s important…