UNVERRICHT DISEASES Meaning and
Definition
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Unverricht disease, also known as Unverricht-Lundborg disease (ULD), is a rare genetic disorder that belongs to a group of progressive myoclonic epilepsies (PMEs). It is characterized by involuntary muscle contractions or jerking movements called myoclonus, which typically begin in adolescence. These myoclonic episodes are typically triggered by physical or emotional stress, fatigue, or anxiety.
In addition to myoclonus, individuals with Unverricht disease may experience tonic-clonic seizures (formerly known as grand mal seizures) and tonic attacks, which are characterized by a sudden stiffening or tightening of the muscles. These seizures usually occur infrequently at the beginning of the disease, but can become more frequent and severe as the condition progresses.
Unverricht disease is caused by mutations in the cystatin B (CSTB) gene, which plays a role in regulating the activity of enzymes called proteases. The exact mechanisms by which these gene mutations lead to the symptoms of Unverricht disease are not yet fully understood.
Currently, there is no known cure for Unverricht disease, and treatment primarily focuses on managing the symptoms. Anti-seizure medications such as valproate or clonazepam are commonly used to reduce the frequency and severity of seizures and myoclonus. Physical therapy and occupational therapy may also be recommended to help manage the physical symptoms and improve quality of life.
Unverricht disease is a chronic condition that affects individuals throughout their lifetime, and its severity can vary among affected individuals. However, with appropriate management and support, individuals with Unverricht disease can lead fulfilling lives.
Common Misspellings for UNVERRICHT DISEASES
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Etymology of UNVERRICHT DISEASES
The term "Unverricht disease" is named after Heinrich Unverricht, a German neurologist who first described the condition in 1891. Unverricht disease, also known as Unverricht-Lundborg disease, is a rare genetic disorder characterized by progressive myoclonic epilepsy. The term "myoclonic" refers to sudden, involuntary muscle jerks, which are a prominent feature of the disease.
