What is Lafora Disease?
Lafora disease is a rare inherited neurometabolic disease that is included in the progressive myoclonic epilepsy syndromes.
It develops as a result of the defect in carbohydrate metabolism, the accumulation of substances called laphora bodies in organs such as the nervous system, heart, liver and sweat glands.
The disease often occurs in late childhood and adolescence and affects both sexes equally. Clinically, epileptic seizures, involuntary movements called myoclonus, and regression in cognitive functions are observed. Lafora disease is a progressive disease.
What Causes Lafora Disease?
Among the causes of Lafora disease, the main factor is genetic factors. This hereditary condition is caused by mutations in the EPM2A and NHLRC1 genes.
Mutated genes must be in both parents. In people who inherit only one faulty gene in the family, this condition may progress without symptoms (asymptomatic).
The seizures that occur during the course of the disease are caused by a nervous disorder in the brain. This causes involuntary contractions and movements in the muscles.
The different factors that can affect the development of the disease are as follows:
What are The Symptoms of Lafora Disease?
Symptoms such as muscle twitching, difficulty in walking, dementia; It is one of the most common symptoms of Laphora disease.
Progressive Myoclonic Epilepsies:
It includes diseases that can worsen over time and become fatal. It can cause conditions such as developmental delay in speech difficulties, with the symptoms observed in adolescence most of the time.
Is an expression that we define sudden contractions in the muscles; These movements can occur regularly or randomly. Symptoms of myoclonus can range from moderate to severe.
We can summarize the symptoms of twitching, which we refer to as myoclonus, as follows:
- It starts suddenly.
- It will take short time.
- Its density and frequency of occurrence are not regular.
- It is often seen in a certain part of the body.
- It negatively affects speech, feeding and movement activities.
These symptoms may differ from person to person.
How is Lafora Disease Diagnosed?
The diagnosis of Lafora disease is made by the specialist by applying some tests and examinations.
Tissue samples are taken from the muscles, brain, or skin to pinpoint the disease. And it is evaluated by pathological staining methods.
With the different tests and examinations to be done, an idea can be obtained about the cause of the disease.
First of all, the patient’s medical history is learned in detail.
The patient is then physically examined. And then some tests and examinations may be requested.
Common tests are as follows:
It is useful to monitor the electrical activity in the brain and to determine whether there is any abnormal condition.
It helps in determining the level of contractions by recording the electrical signals transmitted to the muscles.
Magnetic Resonance Imaging (MRI):
With the MRI method, which is among the imaging techniques, it is monitored whether there is a functional disorder or tumorigenicity tendency.
In addition to these tests, a person’s blood sample can be taken and different analyzes can be performed. In order to determine the disease definitively, tissue samples can be taken and pathological examination and evaluation can be performed. A biopsy sample can also be taken from the organs.
It gives information about the course of seizures that occur in the early stages of the disease. In the later stages of the disease, irregularities and abnormalities in electrical signals can be seen with imaging.
It may not detect a difference from early imaging methods. However, it can be understood as a result of different methods and studies. As a result of the detection of the disease, a personalized treatment plan is made.
What are The Risk Factors of Lafora Disease?
It is an inherited and rare disease. It is usually transferred to the person with the mutated genes in the mother and father. Although it has not been scientifically proven, consanguineous marriage is among the risk factors for this condition.
How is Lafora Disease Treatment?
Unfortunately, there is currently no treatment method that can completely eliminate Labora disease. The treatment planning of the disease is generally in such a way that the patient is supported.
This planning basically aims to control the seizures and increase the functionality of the patient. Although it varies according to the type of seizure that occurs, the control of the seizures occurring in laphora disease is carried out with antiepileptic drugs.
The realization of this treatment plan may vary depending on several factors, as with any other ailment:
- Patient’s Age
- Frequency of Seizures
- Severity of Seizures
- General Health Status
By evaluating these factors, the most appropriate antiepileptic drug is selected for the patient. It should be noted that these drugs have various side effects.
Regular follow-up is very important in this treatment method, which can cause serious side effects. And it should be known that applications such as frequent drug changes or dose adjustments can be made when necessary.
In some individuals, making various lifestyle changes in addition to drug therapy may at least have a reducing effect on seizure triggering.
- Paying attention to sleep hygiene,
- Avoiding flashing lights
- Controlling the stress level
- Quitting alcohol intake,
- Implementing a regular and healthy eating program
In this autosomal recessive disease, siblings of the individual may be born as carriers with 50% probability or as having the disease with 25% probability.
For this reason, individuals with genetic disorders in their families can benefit from genetic counseling services if they want to have children.
Lafora disease is a very difficult period for both young individuals and their parents.
In order for this period to be spent in the best way, if you observe the signs and symptoms of laphora disease in your child or in your environment, it is recommended that you apply to health institutions and get support from specialist physicians.
Frequently Asked Questions About Lafora Disease
What are The Risk Factors of Lafora Disease?
Lafora disease is a genetically inherited, autosomal recessive disease. Consanguineous marriage increases its incidence relatively.
What is Progressive Myoclonic Epilepsy?
Progressive myoclonic epilepsies are a group of diseases with genetic origin, rare, myoclonus and resistant epileptic seizures, and progressive neurodegeneration. The age of onset is usually in childhood and adolescence. They make up less than 1 percent of all epilepsies.
Are There Any Other Diseases Mixed With Lafora Disease?
Lafora disease may be confused with benign epileptic seizures at the onset of the disease. It can be confused with “juvenile myoclonic epilepsy”, which is more common, especially due to the similarity in age of onset.
However, EEG findings, resistance to treatment with antiepileptic drugs, presence of other seizure types, cognitive deterioration and rapid progression of findings suggest progressive myoclonic epilepsy.
In addition, Unverricht-Lundborg disease, which is one of the other diseases with progressive myoclonic seizures, can be confused with neuronal ceroid lipofuscinosis, sialidosis and mitochondrial encephalomyopathies.
What is The Incidence of Lafora Disease? In Which Regions Is It More Common?
It is estimated to occur at a rate of 1-9/1000000 worldwide, with less than 1/1000000 patients in western countries.
It can be seen all over the world. However, it is most commonly seen in Mediterranean countries and Canada.
The frequency of consanguineous marriages is increasing relatively in our country.
What are Lafora Bodies?
Lafora disease occurs due to a disorder in carbohydrate metabolism.
Disease-specific Lafora bodies are the special name given to substances that accumulate in the cell, consisting of abnormal glycogen called polyglucosan.
These bodies are stored in nerve cells and tissues of the heart, liver, muscle and skin.
What Does Myoclonic Mean?
Myoclonus or myoclonus is the name given to the often irregular jumping movement that occurs when a muscle or group of muscles contracts suddenly. Myoclonus is sometimes in the form of a very small movement. Sometimes it can be severe enough to cause the patient to drop their hand or fall to the ground.
It may be easier to emerge with stimuli such as sudden sound, light, touch. Sometimes they occur during an active movement. Myoclonies can be seen in isolation or as a sign of epileptic seizures.
At What Ages Does Lafora’s Disease Occur Most?
Lafora disease occurs in late childhood and early adolescence. It can be seen between the ages of 8-19. Generally, clinical findings begin between the ages of 12-17 on average.
Should Psychological and Social Support Be Taken in Lafora Disease?
Lafora’s disease, which is a progressive disease, causes a compelling process both for the patient himself, his family or the environment that cares for the patient.
For this reason, psychological and social support should be taken when necessary, as it will be beneficial to increase the quality of life and functionality.
In this disease, which is transmitted by autosomal recessive inheritance, the probability of siblings to be carriers is 50 percent and the probability of being sick is 25 percent.
Therefore, genetic counseling is important in the presence of a family member with the disease.