Unverricht–Lundborg disease

Unverricht–Lundborg disease (ULD), also known as Baltic myoclonus, is a type of progressive myoclonus epilepsy (PME). It is a rare, inherited neurodegenerative disorder characterized by myoclonus, epileptic seizures, and a progressive decline in motor skills. The disease was first described by Heinrich Unverricht in 1891 and later by Herman Bernhard Lundborg in 1901.

Symptoms

The primary symptoms of Unverricht–Lundborg disease include:

• Myoclonus: Sudden, involuntary muscle jerks that can be triggered by physical activity, stress, or sensory stimuli.
• Epileptic seizures: Generalized tonic-clonic seizures are common.
• Ataxia: Loss of coordination and balance.
• Dysarthria: Difficulty in articulating words due to muscle weakness.
• Cognitive decline: Progressive deterioration in cognitive functions.

Genetics

Unverricht–Lundborg disease is caused by mutations in the CSTB gene, which encodes the cystatin B protein. This gene is located on chromosome 21. The disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Diagnosis

Diagnosis of Unverricht–Lundborg disease typically involves:

• Electroencephalography (EEG): To detect abnormal brain activity.
• Genetic testing: To identify mutations in the CSTB gene.
• Magnetic resonance imaging (MRI): To observe any structural abnormalities in the brain.

Treatment

There is no cure for Unverricht–Lundborg disease, but treatment focuses on managing symptoms. Common treatments include:

• Antiepileptic drugs: Such as valproate, clonazepam, and levetiracetam to control seizures and myoclonus.
• Physical therapy: To improve motor skills and coordination.
• Occupational therapy: To assist with daily activities and improve quality of life.

Prognosis

The progression of Unverricht–Lundborg disease varies among individuals. While the disease is progressive, many patients can live into adulthood with appropriate management of symptoms. However, the quality of life may be significantly affected due to the severity of myoclonus and seizures.

Related Pages

• Progressive myoclonus epilepsy
• Myoclonus
• Epileptic seizure
• CSTB gene
• Autosomal recessive inheritance

See Also

• Neurodegenerative disorder
• Genetic disorder
• Epilepsy