Unverricht-Lundborg Disease synonyms
What other names are the Unverricht-Lundborg Disease known by? Synonyms and other terms with which Unverricht-Lundborg Disease is known.
Unverricht-Lundborg Disease, also known as Baltic Myoclonus or EPM1 (Epilepsy, Progressive Myoclonic 1), is a rare genetic disorder characterized by progressive myoclonic epilepsy. It was first described by Heinrich Unverricht and Tage Lundborg in the early 1900s. This condition primarily affects individuals of Finnish, Swedish, or other Baltic Sea region descent, although cases have been reported worldwide.
Synonyms for Unverricht-Lundborg Disease include Baltic Myoclonus and EPM1. These terms are often used interchangeably to refer to the same condition.
Unverricht-Lundborg Disease is characterized by a triad of symptoms: myoclonus, tonic-clonic seizures, and progressive neurological deterioration. Myoclonus refers to sudden, brief muscle jerks that can affect various parts of the body. These jerks may be triggered by movement, stress, or sensory stimuli. Tonic-clonic seizures, also known as grand mal seizures, involve loss of consciousness, convulsions, and muscle rigidity. Over time, individuals with Unverricht-Lundborg Disease may experience cognitive decline, difficulties with coordination and balance, and muscle weakness.
The genetic cause of Unverricht-Lundborg Disease is mutations in the CSTB gene, which provides instructions for producing a protein called cystatin B. This protein plays a role in regulating enzymes that break down proteins in the body. Mutations in the CSTB gene lead to the accumulation of toxic protein fragments, causing neuronal dysfunction and ultimately the symptoms of the disease.
Diagnosis of Unverricht-Lundborg Disease involves a combination of clinical evaluation, genetic testing, and electroencephalography (EEG) to detect abnormal brain wave patterns. While there is currently no cure for this condition, treatment focuses on managing symptoms and improving quality of life. Antiepileptic medications can help control seizures, while physical and occupational therapy may assist with mobility and coordination challenges.
In summary, Unverricht-Lundborg Disease, also known as Baltic Myoclonus or EPM1, is a rare genetic disorder characterized by progressive myoclonic epilepsy. It is important to raise awareness about this condition to facilitate early diagnosis and appropriate management strategies for affected individuals.
