SNP Shot: Genomic Insights

Juvenile primary lateral sclerosis (JPLS) is an uncommon condition marked by gradually worsening muscle weakness and stiffness (spasticity) affecting the arms, legs, and face. This disorder arises from the deterioration of motor neurons, specialized nerve cells in the brain and spinal cord responsible for controlling muscle movement.

The symptoms of JPLS typically appear in early childhood and worsen gradually over many years. Initial signs often include clumsiness, muscle weakness and spasticity in the legs, and impaired balance. As the condition progresses, spasticity extends to the arms and hands, and individuals may experience slurred speech, excessive drooling, difficulty swallowing, and ultimately, the inability to walk.

Inheritance:

JPLS resulting from ALS2 gene mutations follows an autosomal recessive inheritance pattern. This means that both copies of the ALS2 gene in each cell must carry a mutation for the disorder to manifest. Individuals with autosomal recessive conditions inherit one mutated copy of the gene from each parent, who are typically carriers and do not exhibit symptoms of the condition themselves.