What is the prevalence of Sjögren-Larsson Syndrome?
How many people does Sjögren-Larsson Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Sjögren-Larsson Syndrome is a rare genetic disorder characterized by a triad of symptoms: ichthyosis (a skin condition), intellectual disability, and spasticity (muscle stiffness). The prevalence of this syndrome is estimated to be approximately 1 in 250,000 to 1 in 1,000,000 individuals worldwide. It is inherited in an autosomal recessive manner, meaning both parents must carry a mutated gene for their child to be affected. Although rare, early diagnosis and management are crucial for individuals with Sjögren-Larsson Syndrome to optimize their quality of life and provide appropriate support.
Sjögren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a triad of symptoms: ichthyosis (a skin condition), spasticity (muscle stiffness), and intellectual disability. The prevalence of SLS is estimated to be approximately 1 in 250,000 to 1 in 500,000 individuals worldwide.
This syndrome is caused by mutations in the ALDH3A2 gene, which is responsible for producing an enzyme called fatty aldehyde dehydrogenase. The deficiency of this enzyme leads to the accumulation of fatty aldehydes in the body, resulting in the characteristic symptoms of SLS.
SLS is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. The disorder is more commonly observed in populations with a higher rate of consanguineous marriages.
Diagnosis of SLS involves clinical evaluation, genetic testing, and assessment of the characteristic symptoms. While there is currently no cure for SLS, treatment focuses on managing the symptoms and improving the quality of life for affected individuals.
Given the rarity of Sjögren-Larsson Syndrome, it is crucial to raise awareness among healthcare professionals and the general public to ensure early diagnosis and appropriate support for affected individuals and their families.
