SNP Shot: Genomic Insights

PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare genetic disorder characterized by recurring seizures (epilepsy) and movement difficulties. Typically, the condition's symptoms emerge between the ages of 5 and 10.

Ataxia, characterized by impaired balance and coordination, is usually the initial symptom of PRICKLE1-related progressive myoclonus epilepsy with ataxia. Affected children often struggle with walking, displaying an unsteady, wide-based gait and experiencing frequent falls. As the condition progresses, individuals develop myoclonus, characterized by involuntary muscle jerks or twitches, further impacting movement. Myoclonus can also affect facial muscles, leading to difficulty swallowing and slurred speech (dysarthria).

Later in childhood, some individuals experience tonic-clonic or grand mal seizures. These seizures involve a loss of consciousness, muscle stiffness, and convulsions. They commonly occur during sleep (nocturnal seizures).

PRICKLE1-related progressive myoclonus epilepsy with ataxia generally does not impair intellectual function. While some affected individuals have died in childhood, many survive into adulthood.

Inheritance:

PRICKLE1-related progressive myoclonus epilepsy with ataxia can be inherited in an autosomal recessive manner, requiring mutations in both copies of the PRICKLE1 gene in each cell. In these cases, each parent carries one copy of the mutated gene but usually doesn't exhibit symptoms of the condition. Alternatively, some cases are autosomal dominant, meaning that a mutation in just one copy of the gene is enough to cause the disorder. These cases usually occur due to new (de novo) mutations in the gene, arising spontaneously in individuals without any family history of the condition.