SNP Shot: Genomic Insights

Adenosine monophosphate (AMP) deaminase deficiency is a condition impacting skeletal muscles, responsible for movement. Many individuals with this deficiency are asymptomatic. Symptomatic individuals commonly experience fatigue, muscle pain (myalgia), or cramps following exercise or prolonged physical activity (exercise intolerance). These individuals often experience quicker and prolonged fatigue after intense activity compared to what is considered typical. Rarely, more severe symptoms such as significant muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy) may occur, although the direct link to AMP deaminase deficiency alone, versus co-existing conditions, is uncertain. Exercise intolerance related to this deficiency usually manifests during childhood or early adulthood.

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 relevant gene from each parent. Parents who each carry one copy of the mutated gene are typically asymptomatic.