Lafora disease is a rare, inherited, progressive neurological disorder that affects the nervous system. It is characterized by the presence of abnormal polyglucosan bodies in the brain and other tissues. Symptoms typically begin in late childhood or early adolescence and include seizures, progressive myoclonus epilepsy, and dementia. There is currently no cure for Lafora disease, and treatment is focused on managing symptoms.

The symptoms of Lafora disease vary from person to person, but generally include:

-Seizures

-Myoclonic jerks

-Loss of muscle coordination

-Loss of vision

-Loss of speech

-Difficulty walking

-Mental decline

-Behavioral changes

-Personality changes

-Memory loss

-Difficulty with daily activities

-Muscle wasting

-Difficulty swallowing

-Difficulty breathing

Lafora disease is an inherited, progressive neurological disorder caused by mutations in the EPM2A and NHLRC1 genes. These mutations cause the body to produce abnormal forms of a protein called laforin, which is involved in the breakdown of glycogen, a form of sugar stored in the body. Without laforin, glycogen accumulates in the cells of the brain and other organs, leading to the symptoms of Lafora disease.

Currently, there is no cure for Lafora disease. Treatment focuses on managing symptoms and providing supportive care. This may include medications to control seizures, physical therapy to maintain muscle strength, and speech therapy to help with communication. Other treatments may include dietary modifications, such as a low-glycemic diet, to help manage seizures. Additionally, genetic counseling may be recommended for families affected by Lafora disease.

The primary risk factor for Lafora disease is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent and having a mutation in the EPM2A gene.

Unfortunately, there is no cure for Lafora disease. However, medications such as valproic acid, vigabatrin, and clobazam may be used to help manage the symptoms of the disease. Additionally, a ketogenic diet may be beneficial in some cases.