About Early-onset Lafora body disease
What is Early-onset Lafora body disease?
Early-onset Lafora body disease (ELBD) is a rare, progressive, and fatal neurological disorder that typically begins in childhood or adolescence. It is characterized by the accumulation of abnormal polyglucosan bodies in the brain and other tissues. Symptoms include seizures, progressive myoclonus epilepsy, ataxia, dementia, and visual disturbances. There is currently no cure for ELBD, and treatment is focused on managing symptoms.
What are the symptoms of Early-onset Lafora body disease?
The symptoms of Early-onset Lafora body disease typically begin in childhood or adolescence and can include:
- Seizures
Myoclonic seizures
Absence seizures
Generalized tonic-clonic seizures
- Cognitive decline
Impaired memory
Impaired language
Impaired executive functioning
- Behavioral changes
Personality changes
Depression
Anxiety
- Motor problems
Ataxia
Dystonia
Myoclonus
- Visual disturbances
Blindness
Visual hallucinations
- Skin changes
Skin rash
Hyperpigmentation
- Other symptoms
Fatigue
Weight loss
Muscle wasting
What are the causes of Early-onset Lafora body disease?
Early-onset Lafora body disease is caused by mutations in the EPM2A gene. This gene provides instructions for making an enzyme called laforin, which helps regulate the breakdown of certain carbohydrates in the body. Mutations in the EPM2A gene lead to a shortage of laforin, which causes the buildup of abnormal carbohydrates called Lafora bodies in the brain and other tissues.
What are the treatments for Early-onset Lafora body disease?
Unfortunately, there is no known cure for Early-onset Lafora body disease. Treatment focuses on managing the symptoms and providing supportive care. This may include medications to control seizures, physical therapy to maintain muscle strength, and nutritional support to maintain a healthy weight. Other treatments may include speech therapy, occupational therapy, and psychological support.
What are the risk factors for Early-onset Lafora body disease?
The primary risk factor for Early-onset Lafora body disease is a genetic mutation in the EPM2A gene. This gene mutation is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene in order for a child to be affected. Other risk factors include family history of the disease, ethnicity, and environmental factors.
Is there a cure/medications for Early-onset Lafora body disease?
At this time, there is no cure for Early-onset Lafora body disease. However, medications can be used to help manage the symptoms of the disease. These medications include anticonvulsants, muscle relaxants, and medications to help with sleep disturbances. Additionally, physical and occupational therapy can help to improve mobility and quality of life.