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What

Unverricht-Lundburg disease is a rare condition with a progressive course of myoclonus and seizures. Myoclonus is a simple jerk-like movement that is neither voluntary nor coordinated. With respect to this disease, the myoclonus is often triggered by movement, flashing lights and even certain sounds and stress. Simple forms of myoclonus occur in healthy individuals, such as the twitching one may experience when falling asleep, but this disease is characterized by regular or even constant jerkiness and is associated with other neurological conditions such as seizures.

Who

This disease is most common among people from Finnish or western Mediterranean descent, but is found in many other ethnic groups. Approximately 1 in 20,000 people in Finland have this disease and it is much rarer in other countries. Onset of symptoms is typically between the ages of 6 and 13 years.

Signs and Symptoms

Patients with this disease usually first experience myoclonus when attempting to move their arms and legs. Another common presenting sign is seizures. In addition to these two symptoms, affected patients later develop difficulty in speaking, an inability to coordinate movements, tremors and mild intellectual decline.

Possible Causes

The underlying problem is the loss of function in a gene located on chromosome 21. This particular gene is responsible for the production of a protein named cystatin B, and Unverricht-Lundburg disease develops when this protein is absent. This condition has an autosomal recessive mode of inheritance. This means that a child will only develop this disease if he or she has inherited a specific gene on chromosome 21 from both parents that have a genetic change. The patient’s parents are not affected because they each have a gene with a change and a normal gene, so their neurons still have one functioning copy of the cystatin B. It is important for parents to realize that there was no way for them to know they had this gene change before they had a child together who is affected with the disease. Once a child is diagnosed with this disease, the parents will be counseled to inform them that every other child they have had or plan to have has a 25% chance of having this disease.

Diagnosis

When a patient is being evaluated by a doctor for their symptoms, the doctor must carefully observe the patient’s symptoms as there are a number of neurological diseases that can produce similar symptoms. This diagnosis is made when a physician correlates the age of onset, types of movements, presence of any triggering factors, and the area of the defect within the patient's nervous system. Testing that can help with the diagnosis may include laboratory and imaging studies as well as tests of the nervous system’s function. Genetic testing is used to confirm the diagnosis.

Treatment

Unfortunately, there is no cure for this disease but a number of drugs have been used to successfully minimize the symptoms. Treatment usually begins with a single drug but may eventually include several medications. The drug choice is usually guided by the severity of symptoms and the possible side effects that each drug may cause. With modern anticonvulsive treatment, including sodium valporate as the first drug of choice, the tonic-clonic seizures may cease, the development of myoclonus may stabilize, and disability may decline. Phenytoin, a drug that is used to treat epilepsy, a seizure disorder, was used in the past but has been proven to worsen the symptoms of this disease. Also, psychological therapy may be needed to treat emotional issues that come about as a result of this diagnosis, especially during the teenage years.

Prognosis

Fortunately, the progression of this disease is quite slow and patients maintain normal cognitive abilities for a long time. However, patients will slowly begin to experience worsening symptoms and eventually begin to demonstrate a decline in intelligence. Average life expectancy for patients with this disease has been between 50 and 60 years of age but with early diagnosis and treatment to delay progression, patients can be expected to live into their 60s and even 70s.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

We Move: Worldwide Education and Awareness for Movement Disorders http://www.wemove.org/myo/default.htm Great deal of information about myoclonic disorders, the process of diagnosing them and detailed information about the various medications used to treat this disease. epilepsy.com http://www.epilepsy.com/epilepsy/epilepsy_unverrichtlundborg.html#thetop Information about the various types of epilepsy and how they are different from one another. The EMBO Journal http://www.nature.com/cgi-taf/DynaPage.taf?file=/emboj/journal/v22/n14/full/7590748a.html Detailed information about the molecular basis of the disease. epilepsy Foundation http://www.epilepsyfoundation.org/forums/messageview.cfm?catid=22&threadid=28364&enterthread=y Open forum with other patients to ask for advice and receive support.

Google Search for Unverricht-Lundburg Disease

References and Sources

Up to Date Online www.utdol.com