Lafora Disease : causes, symptoms, diagnosis, treatment

The is most serious and dangerous form of human epilepsy is Lafora disease.

It is a condition of hereditary myoclonus epilepsy. Most Lafora disorder patients are resulted by changes in one from two familiar genetic factor: EMP2A and EMP2B, respectively. These genes are found on chromosome 6.

The EPM2A gene produces the protein called Laforin and the protein Malign is created by the EPM2B gene.


  • The Spanish neuropathologist Gonzalo Rodríguez Lafora (1886-1971) identified Lafora disease (LD) in 1911, while heading the Neuropathology Department at the Government Mental Insane Hospital.
  • In puberty, the disorder most often begins as epileptic seizures. It rarely starts out as a learning disability in children. The young individuals face problems in understanding and learning the things.
  • Lafora disorder is a hereditary, serious type of epilepsy with progressive myoclonus. The disorder most often starts in late childhood or adolescence with epileptic seizures.
  • Depending on the genes affected, symptoms of this disease began to arise at any age. There is no treatment for this condition at present, but there are ways to cope with it.

Symptoms of Lafora Disease

  • Side effects of Lafora sickness start to create during the early young adult years, and indications progress over the long haul.
  • A long time before at that point, there is for the most part no sign of the presence of the illness, however in a couple of cases, the sickness presents as a learning issue around 5 years old.
  • In amazingly uncommon cases, indications may not show at all until as late as the third decade of life, however these cases have more slow movement than regular LD.
  • The most well-known component of Lafora sickness is seizures that have been accounted for chiefly as occipital seizures and myoclonic seizures for certain instances of summed up tonic-clonic seizures, abnormal nonappearance seizures, and atonic and complex halfway seizures.
  • Different indications normal with the seizures are drop assaults, ataxia, impermanent visual deficiency, visual visualizations, and a rapidly creating and sensational dementia.
  • Other normal signs and side effects related with Lafora sickness are conduct changes because of the recurrence of seizures. Over the long haul those influenced with Lafora illness have cerebrum changes that create turmoil, discourse challenges, wretchedness, decrease in scholarly capacity, weakened judgment and hindered memory.

Causes of Lafora Disease

  • Most Lafora sickness cases are brought about by either the EPM2A quality or the NHLRC1 quality changes (transformations). These qualities encode proteins that assume a significant part in the mind’s endurance of nerve cells (neurons).
  • Although proteins in the body are thought to have numerous capacities, one significant job is to help manage the creation of an intricate substance atom glycogen (a significant wellspring of put away energy in the body).
  • EPM2A quality or NHLRC1 quality changes meddle with the advancement of useful proteins, bringing about the development inside the phones of Lafora bodies (clusters of unusual glycogens that can’t be separated and utilized for fuel).
  • Lafora body develop will in general be exceptionally negative to sensory system cells and adds to signs and side effects of Lafora sickness

Diagnosis of Lafora Disease

Based on the occurrence of clinical symptoms, an analysis for Lafora illness is also frequently assumed. In order to justify the analysis also regulation of further situations that may source for comparable features, appropriate testing may then be ordered.

Lafora Disorder is diagnosed by a physician undertaking a number of tests. An EEG, MRI, and genetic tests are required to validate the diagnosis. In order to identify and prove the existence of Lafora bodies in the skin, a biopsy may also be needed.

Treatment of Lafora Disease

  • There is still, sadly, no treatment or means of stopping the development of Lafora disease. Treatment depends on the signs and symptoms that are present in each individual.
  • For example, to treat generalized seizures, some drugs may be prescribed. A gastrostomy tube may be positioned for feeding in the advanced stages of the disease.
  • Medicines believed to make myoclonus (i.e., phenytoin) worse should be avoided.


Pathology indicates that in any other progressive myoclonus epilepsy, pathognomonic poly glucan inclusions are not seen. Lafora disease is one of the poly glucan neurological disorders which is associated with the brain.

 It is not clear why the polyglucan bodies of Lafora are associated with epilepsy. Up to 80 percent of Lafora disorder individuals have EPM2A gene mutations. Some genetic tests have been identified to differentiate the changes in the DNA.

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