SNP Shot: Genomic Insights

Krabbe disease, also known as globoid cell leukodystrophy, is a serious neurological disorder. It falls under the category of leukodystrophies, diseases characterized by the breakdown of myelin (demyelination) in the nervous system. Myelin acts as a protective layer around nerve cells, facilitating the swift transmission of nerve impulses. A hallmark of Krabbe disease is the presence of abnormal brain cells called globoid cells, which are large cells often containing multiple nuclei.

The infantile form is the most prevalent type of Krabbe disease, typically appearing before the first year of life. Early indicators often include irritability, muscle weakness, problems with feeding, unexplained fevers, stiffness, and delays in mental and physical development. As the disease advances, muscle weakness worsens, impairing the infant's ability to move, chew, swallow, and breathe. Vision loss and seizures also occur. Due to the severity of the condition, infants with the infantile form of Krabbe disease rarely live past the age of two.

In less frequent cases, Krabbe disease can manifest in childhood, adolescence, or adulthood (late-onset forms). The most common initial symptoms in these later-onset forms are vision issues and difficulties with walking. However, the specific signs and symptoms can vary significantly from person to person. Individuals with late-onset Krabbe disease can survive for many years after the onset of the condition.

Inheritance:

Krabbe disease is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are usually asymptomatic carriers of the disease.