Sjögren-Larsson Syndrome
Description
Sjögren-Larsson Syndrome (SLS) is a rare genetic disorder that affects multiple parts of the body, primarily the skin, nervous system, and vision. This comprehensive guide will delve into the intricacies of SLS, providing insights into its signs and symptoms, causes, inheritance pattern, diagnosis, management strategies, and ways to thrive with this condition.
Genes Involved
Sjögren-Larsson Syndrome is caused by mutations in the ALDH3A2 gene. This gene provides instructions for creating an enzyme called fatty aldehyde dehydrogenase. This enzyme plays a crucial role in breaking down fatty acids, and its deficiency leads to the accumulation of toxic fatty substances in the body.
Recognizing the Signs and Symptoms
Sjögren-Larsson Syndrome manifests with a distinctive set of symptoms, including:
- Ichthyosis: Dry, scaly skin resembling fish scales, particularly on the legs, trunk, and arms.
- Neurological Issues: Cerebral palsy, spasticity, intellectual disability, and seizures are common.
- Vision Impairment: Visual difficulties like nystagmus (rapid, involuntary eye movements) and optic atrophy may occur.
- Other Symptoms: Growth retardation, delayed development, and behavioral issues may also be present.
Causes
SLS is an inherited disorder, meaning it‘s passed down through families. It follows an autosomal recessive inheritance pattern. This implies that both parents must carry the faulty gene for their child to inherit the disorder.
Inheritance/recurrence risk
If both parents are carriers of the mutated ALDH3A2 gene, there is a 25% chance their child will inherit the disorder, a 50% chance their child will be a carrier like them, and a 25% chance their child will inherit two normal copies of the gene and be unaffected.
