Lafora Disease Definition and Meaning

Lafora disease is also known as progressive myoclonic elepsia 2 or Lafora inclusion body disease. It is a neurological hereditary disease that belongs to the group of polyglucosan diseases and progressive myclonic epilepsies. It is characterized by muscle spasms, hallucinations, dementia and complete loss of cognitive ability. This fatal neurodegenerative disease begins insidiously in childhood or adolescence.

What is Lafora disease?

The consequences of this accumulation of glycogen in the brain cells have devastating consequences for the organism. Sufferers suffer from epileptic seizures, which are characterized by violent and random muscle spasms and muscle twitches. See AbbreviationFinder for abbreviations related to Lafora Disease.

Lafora disease is an autosomal recessive disorder characterized by involuntary, violent, and generalized muscle twitching. The first symptoms and symptoms appear in young people in childhood or adolescence. This neurological disease has not yet been cured and is regularly fatal.

Those affected rarely live to be more than 25 years old. They suffer from hallucinations, and as the disease progresses, they also develop dementia and loss of cognitive abilities. Prevalence in the western world is one in a million, increasing in geographically isolated counties and regions where intermarriage is not uncommon.


The cause is an autosomal recessive genetic mutation of the genes EPM2A, which codes for the enzyme Laforin, and NHLRC1, which codes for malin, which contains amino acids and zinc. It is a rare fatal form of epilepsy that is passed from both parents to the child through recessive inheritance. Although the parents themselves carry the genetic defect responsible for this disease, it has not broken out in them.

In rare cases, Lafora disease is not inherited in a recessive manner, but is the result of a random gene mutation. There are several control systems in the brain that prevent the accumulation of excessive amounts of sugar in the nerve cells. Guardian proteins ensure that these control systems function smoothly. Sugar in its storage form glycogen is a welcome source of energy for most body cells.

However, it is deadly for the brain cells. In healthy people, carbohydrate stores are kept off so that they are not accidentally activated. In people suffering from Lafora’s disease, this control mechanism is suspended and small globs of sugar in the form of glycogen dock onto the brain cells and turn them off.

The two proteins of the responsible genes prevent glycogen production. They are so closely linked that the defect in one protein also disables the second gene involved. The control mechanism is disrupted and triggers different reactions that favor the storage of glycogen granules on the brain cells, ultimately leading to the death of the nerve cells.

Symptoms, Ailments & Signs

The consequences of this accumulation of glycogen in the brain cells have devastating consequences for the organism. Sufferers suffer from epileptic seizures, which are characterized by violent and random muscle spasms and muscle twitches. The patient has difficulty coordinating his movements and muscle functions.

In addition, hallucinations, memory lapses and difficulty thinking occur, which lead to dementia as the disease progresses. In the final stage, there is a significant decline in cognitive performance with temporary blindness. Epileptic seizures are becoming more frequent and more violent.

Diagnosis & course of disease

As the disease progresses, the symptoms and symptoms worsen, since there is still no successful therapy for this neurodegenerative hereditary disease. For this reason, it is always fatal, with patients usually dying within ten years of diagnosis. In the final stages of the disease, the patient’s cognitive abilities and physical condition are so limited that he or she needs nursing care.

A hospital stay may also be necessary. The treating doctor performs a skin biopsy, alternatively a liver or brain biopsy, to get final certainty about whether the patient actually has Lafora disease. The biopsy is supported by various genetic tests. In addition to the patient, the patient’s parents are also tested to determine if they are carriers of this genetic defect.

This hereditary genetic examination gives the doctor treating you the final certainty that it is an autosomal recessive inheritance and not a random gene mutation.


Lafora disease is associated with very serious signs and symptoms. In the worst case, it can even lead to the death of the patient if no treatment for this disease is initiated. As a rule, patients with this disease suffer from muscle spasms and also from epileptic seizures. The quality of life of those affected is significantly reduced by these symptoms. It is also not uncommon for pain to occur.

The patients show involuntary movements and can no longer control their muscles independently. In many cases, they are therefore dependent on the help of other people in their everyday lives. Memory lapses can also occur. Those affected also suffer from thinking difficulties and symptoms of dementia. Lafora disease can cause serious psychological problems or depression, especially for relatives or parents.

The disease can also lead to blindness. It is not possible to treat Lafora disease causally. For this reason, the treatment takes place symptomatically and depends on the symptoms. However, a completely positive course of the disease does not occur, so that in most cases the patients are dependent on the help and support of other people throughout their lives.

When should you go to the doctor?

Parents who notice signs of Lafora disease in their child should speak to the pediatrician immediately. The disease progresses rapidly and the cause cannot yet be treated, which is why symptomatic therapy must be initiated at an early stage. Characteristic symptoms such as seizures, hallucinations or learning disorders require rapid clarification. If other symptoms appear, medical advice is required in any case. The doctor can take a biopsy and rule out or diagnose the condition.

If Lafora disease is actually present, therapeutic measures must be started promptly. During therapy, consultation with a doctor must be held at regular intervals. If the prescribed medication causes side effects or has no effect, the doctor responsible must be informed. Since Lafora disease is a hereditary disease, it can be diagnosed in the womb if there is a concrete suspicion. Genetic testing should therefore take place if one parent has the disease. This means that treatment can begin immediately after birth.

Treatment & Therapy

There is currently no cure for this neurodegenerative disease, the symptoms and complaints worsen within a comparatively short time, so that the patients usually do not live to be older than 25 years. The doctor treating you can only prescribe anticonvulsant medication to reduce the muscle contractions and thus the patient’s suffering.

Preferably, the attending physician prescribes a muscle relaxant (myotonolytic) such as clonazepam and antiepileptic drugs such as valproic acid. Clonazepam from the benzodiazepine drug group is already used in children suffering from epilepsy. It has an antispasmodic effect and relaxes the muscles. Valproic acid is an effective form of therapy for generalized forms of epilepsy, which also has an impulse and mood-stabilizing effect.

These two drugs can only positively accompany the course of Lafora’s disease and reduce the symptoms, but not cure them or enable the patient to live a normal life under the circumstances in the long term. In addition to drug therapy, psychological support for the patient and parents is also recommended.

Outlook & Forecast

Little research has been done on Lafora disease. It occurs in about one in a million people. Scientists assume that it is inherited and transmitted through the conception of children among relatives. There are no prospects of recovery. Doctors try to calm acute complaints. Life expectancy is significantly reduced. Almost all those affected do not even reach the age of 25. The typical symptoms begin in the second decade of life. Patients then have another four to ten years, during which their cognitive abilities decline and convulsions increase continuously.

It is not advisable to forego treatment. Although the lifetime remains the same, doctors can alleviate many symptoms. In this way, the pain of decay can be curbed. The disease is not only a burden for the patient, but also for the relatives.

Psychotherapies can pursue meaningful questions and address or structure the path towards the end of life. The prognosis after a diagnosed Lafora disease could not be less favourable. Sick people need help in their short lives. The development of a professional perspective is subject to narrow limits from the outset.


Most of those affected do not know that they suffer from this disease until the final diagnosis. Since this is a rare gene mutation that is passed on to the child by both parents, prevention in the clinical sense is not possible. As a rule, the parents only find out after the final diagnosis and the further genetic tests that they too are carriers of this genetic defect, which, however, has not broken out in them.


In the case of Lafora disease, the aftercare measures are severely limited in most cases, so that those affected by this disease are dependent on intensive medical treatment in any case. First and foremost, this is designed to prevent further deterioration of the symptoms. Self-healing cannot occur with Lafora disease, so treatment by a doctor must always take place.

In most cases, this disease requires taking various medications that can relieve the symptoms. However, a complete cure cannot take place, so that most of those affected die at a very young age. The life expectancy of those affected is therefore significantly reduced by Lafora disease. Because of the symptoms, most of those affected depend on the help and support of friends and family in their lives.

Loving and intensive conversations also have a positive effect on the mental state of the person concerned and can prevent further mental disorders or even depression. In the case of a desire to have children, genetic testing and counseling should always be carried out with Lafora disease in order to prevent the disease from recurring.

You can do that yourself

Lafora disease is a serious condition that can be fatal in the worst cases. For this reason, it is advisable for those affected and their relatives to seek therapeutic advice in the first place. Since the disease is usually diagnosed in childhood, early counseling makes sense. The next steps can then be decided together with the psychologist .

The affected child usually has to attend a special needs kindergarten and later a special needs school – both should be initiated as early as possible in order to avoid problems later. Medical attention is also required for Lafora disease. The patient must be examined regularly in the doctor’s office so that any complications can be dealt with quickly and in a targeted manner. Various medications can be prescribed to counteract the typical muscle cramps and uncoordinated movements.

Parents should always make sure to keep an eye on the child and to intervene immediately in the event of cramps. If the child is soothed and sedated directly, at least accidents and falls can be avoided. In addition, the risk of panic attacks is reduced if a person of trust is nearby to calm the person concerned.

Lafora Disease

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