Lafora's disease is one of the most severe forms of epilepsy and is an inherited disorder. The signs and symptoms usually appear in late childhood or adolescence and worsen over time. Symptoms include sudden muscle contractions, temporary blindness and visual hallucinations, and later on, severe symptoms such as difficulty speaking and loss of balance. Treatment is usually aimed at controlling seizures and improving the patient's functionality.
Lafora's disease is a severe progressive genetic disorder within the progressive myoclonic epilepsies. Muscle twitching (myoclonus), difficulty walking and dementia may be among the different symptoms that can be seen in this disorder. There is a serious decline in the cognitive functions of the patients. This decline is often linked to the timing of the onset of seizures. The main genes that cause the disease are the EPM2A or NHLRC1 genes. Seizures can increase in severity over time and can be life-threatening.
What are the symptoms of Lafora's disease?
Symptoms of Lafora disease usually appear in late childhood or adolescence. Children may have had epileptic seizures or convulsions in infancy or early childhood, although there is usually no abnormality in their development before the symptoms. The onset of seizures is usually between the ages of 12 and 17.
The type of seizure that causes convulsions throughout the body, with sudden and jumping irregular muscle spasms, leading to myoclonic seizures, temporary blindness and hallucinations. The frequency and severity of epileptic seizures increase with advancing time, making treatment more difficult.
Difficulty in walking and impaired balance may be observed. Generally, affected children's school achievement decreases. Behavior and speech disorders occur. As the disease progresses, the decline and deterioration in brain function becomes clear. In most cases, the disease progresses within 5 to 10 years.
Signs and symptoms may vary from person to person. Seizures are the main symptoms. Seizure attacks develop due to problems caused by the nervous system disorder in seizures, which occur quite a lot during the course of the disease.
What Causes Lafora Disease?
The main factor among the causes of Lafora disease is genetic factors. Mutations in the EPM2A and NHLRC1 genes cause this condition, which is an inherited condition. Mutated genes must be present in both mother and father. In people who inherit only one faulty gene, the condition can progress asymptomatically.
The convulsive seizures that occur in the course of the disease are caused by a neural disorder in the brain. This causes involuntary muscle contractions and movements. The different factors that can affect the development of the disease are as follows:
- Stress
- Fatigue
- Fire
- Infection
How is Lafora Disease Diagnosed?
Lafora's disease is diagnosed by the specialist by applying a number of tests and examinations. In order to determine the disease precisely, tissue samples are taken from muscles, brain or skin and evaluated with pathological staining methods.
Different tests and examinations can be performed to get an idea about the cause of the disease. First, the patient's medical history is obtained in detail. Then a physical examination is performed. Then some tests and examinations may be requested. The tests usually performed are as follows:
Electroencephalography (EEG): It helps to monitor the electrical activity in the brain and determine whether there is any abnormal condition.
Electromyography (EMG): It helps to determine the level of contractions by recording the electrical signals transmitted to the muscles.
Magnetic Resonance Imaging (MRI): One of the imaging techniques, the MRI method monitors whether there is a functional disorder or a tendency to tumorization.
In addition to these examinations, a blood sample can be taken and different analyzes can also be performed. Tissue samples can be taken for pathological examination and evaluation to determine the exact disease. Biopsy samples can also be taken from organs.
EEG tests provide information about the course of seizures that occur in the early stages of the disease. In the later stages of the disease, imaging may reveal irregularities and abnormalities in electrical signals. A difference may not be detected with MRI, one of the imaging methods performed in the early stages. However, it can be understood as a result of different methods and studies. As a result of the determination of the disease, personalized treatment planning is made.
How is Lafora's Disease Treatment?
Lafora's disease treatment usually aims to control seizures and improve the patient's functionality. Since there is no treatment method that can definitively eliminate the disease, supportive treatment planning is made for the patient. These plans may differ depending on the type of seizure that occurs.
The specialist usually prescribes antiepileptic drugs to control the seizures. Treatment varies from person to person. Generally, treatment is planned according to the patient's age, the frequency and severity of seizures and the patient's general health.
After evaluating the causative factors, the appropriate medication is selected for the patient. Since medications can have serious side effects, only medications prescribed by specialist doctors should be used. Your doctor will also determine how often and how to use these medications. During the treatment process, doctor control and treatment follow-up are important. If necessary, medications and their use may be changed.
In some cases, different lifestyle changes can be made in addition to medication. These changes may prevent the frequency of seizures. Lifestyle changes include improving sleep quality, avoiding triggering factors, controlling stress levels, stopping alcohol use, and adopting regular and healthy eating habits.