Five Rare Conditions In Children: Symptoms, Diagnosis And Treatment

Five Rare Conditions In Children: Symptoms, Diagnosis And Treatment

Rare diseases in children encompass a wide array of disorders, often characterized by their low prevalence but high impact on affected individuals and their families. These diseases can be genetic, metabolic, or stem from other complex causes, and often present significant challenges in terms of diagnosis, treatment, and management. 


Common characteristics

  • Low prevalence: By definition, a rare disease affects fewer than 200,000 people in the U.S. or fewer than 1 in 2,000 people in Europe.
  • Genetic origin: A sizable proportion of rare diseases in children are genetic, caused by mutations in single genes, chromosomal abnormalities, or mitochondrial defects.
  • Chronic and serious: These conditions are often chronic, progressive, and life-threatening.

Examples of rare diseases in children

  1. Cystic Fibrosis: A genetic disorder affecting the respiratory and digestive systems.
  2. Duchenne Muscular Dystrophy: A genetic disorder characterized by progressive muscle degeneration and weakness.
  3. Rett Syndrome: A neurodevelopmental disorder primarily affecting girls, leading to severe cognitive and physical impairment.
  4. Spinal Muscular Atrophy: A genetic disorder affecting the motor neurons of the spinal cord, leading to muscle wasting.
  5. Gaucher Disease: A genetic disorder resulting from a deficiency of the enzyme glucocerebrosidase. 
     

References; 
https://www.csl.com/ 
https://curegrin.org/ 
https://www.chp.edu/ 
https://www.ouhealth.com/ 
https://www.nationwidechildrens.org/


Image credit: Generated with AI ∙ July 2, 2024 at 6:10 AM

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Author: Sumana Rao | Posted on: July 2, 2024

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