Unverricht disease, also known as progressive myoclonus epilepsy type 1 (EPM1), is a rare genetic disorder that affects the central nervous system. It is characterized by recurring seizures, involuntary muscle twitching (myoclonus), difficulties with coordination and balance, and cognitive decline.
Individuals with Unverricht disease usually experience their first symptoms during childhood or adolescence. These symptoms typically include myoclonus, which presents as sudden, brief muscle jerks that can be triggered by various stimuli such as noise or touch. These jerks commonly affect the arms, legs, and trunk, and may result in clumsiness or falls due to impaired coordination.
As the disease progresses, individuals may also develop tonic-clonic seizures, also known as grand mal seizures, characterized by loss of consciousness, convulsions, and stiffness of the muscles.
Cognitive decline is another hallmark of Unverricht disease, with affected individuals experiencing difficulties in concentration, memory, and learning over time. Some individuals may also exhibit emotional and behavioral changes, including depression and anxiety.
Unverricht disease is caused by mutations in the cystatin B gene (CSTB) and is inherited in an autosomal recessive manner, meaning an individual must inherit a mutated copy of the gene from both parents to develop the condition.
Currently, there is no cure for Unverricht disease. Treatment mainly focuses on managing symptoms, which may include medications to control seizures and myoclonus, physical therapy to improve coordination and mobility, and psychiatric support for cognitive and emotional challenges.
