SNP Shot: Genomic Insights

Sepiapterin reductase deficiency is a disorder primarily affecting movement, often manifesting as dystonia, a condition causing involuntary, sustained muscle contractions. Other motor impairments can include spasticity (muscle stiffness), tremors, ataxia (coordination and balance difficulties), and chorea (involuntary jerking movements). Individuals with this deficiency may also experience oculogyric crises, characterized by abnormal eye rotation, extreme irritability and agitation, pain, muscle spasms, and uncontrolled movements, particularly of the head and neck. These movement-related issues often intensify later in the day. Many affected individuals exhibit delayed motor development, such as difficulties sitting and crawling, and usually require assistance with walking. The severity of these movement problems typically increases with time.

Beyond movement issues, individuals with sepiapterin reductase deficiency can present with other symptoms, including microcephaly (an abnormally small head), intellectual disability, seizures, excessive sleepiness, and mood fluctuations.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that to develop the condition, an individual must inherit a mutated copy of the gene from both parents. While each parent carries one copy of the mutated gene, they usually do not exhibit any signs or symptoms of the deficiency themselves.