SNP Shot: Genomic Insights

Unverricht-Lundborg disease (ULD) is a rare, inherited type of epilepsy. Typically, symptoms of this condition begin to appear between the ages of 6 and 15.

ULD is a form of progressive myoclonus epilepsy. Individuals with ULD experience myoclonus, characterized by involuntary muscle jerks or twitches. These episodes become more frequent and intense over time. Myoclonus can be triggered by factors such as physical activity, stress, light, or other sensory inputs. Over a period of 5 to 10 years, the myoclonic episodes may become debilitating, affecting the ability to walk and perform daily tasks.

Individuals with ULD commonly experience tonic-clonic (grand mal) seizures, which involve loss of consciousness, muscle stiffness, and convulsions. Similar to myoclonic episodes, the frequency of these seizures may increase over several years, but they can often be managed with medication. After a period of progression, the occurrence of seizures may stabilize or even decrease.

Over time, individuals with ULD may develop ataxia, which affects balance and coordination. They may also experience intention tremor, an involuntary shaking that worsens with movement, dysarthria, characterized by difficulties with speech, depression, and a gradual, mild decline in cognitive abilities.

Individuals with ULD generally live into adulthood. Life expectancy can be normal, depending on the severity of the disease and how well the individual responds to treatment.

Inheritance:

ULD is inherited in an autosomal recessive manner. This means that both copies of the relevant gene in each cell must have mutations for the condition to develop. Individuals with autosomal recessive conditions inherit one copy of the mutated gene from each parent. The parents, who each carry only one copy, typically do not exhibit any signs or symptoms of the condition.