Summary about Disease
Wagner-Unverricht disease, also known as Lafora disease, is a rare, autosomal recessive, progressive myoclonic epilepsy. It is characterized by the presence of Lafora bodies, which are abnormal accumulations of glycogen within cells, particularly in the brain, muscles, and skin. The disease typically manifests in adolescence and is marked by rapidly progressive neurological deterioration.
Symptoms
Symptoms typically begin in adolescence (around 12-17 years old) and can include:
Myoclonic seizures (sudden, brief, involuntary muscle jerks)
Generalized tonic-clonic seizures (grand mal seizures)
Visual disturbances (blurred vision, hallucinations)
Cognitive decline (memory loss, confusion, dementia)
Ataxia (loss of coordination)
Dysarthria (difficulty speaking)
Depression and/or psychosis
Muscle stiffness or rigidity
Causes
Lafora disease is caused by mutations in genes that are involved in glycogen metabolism. The most common genes implicated are:
EPM2A (encodes laforin, a dual-specificity phosphatase)
NHLRC1 (also known as *EPM2B*, encodes malin, an E3 ubiquitin ligase) Mutations in these genes lead to the accumulation of abnormally structured glycogen (Lafora bodies) in cells, particularly in neurons, leading to neuronal dysfunction and cell death.
Medicine Used
There is no cure for Lafora disease. Treatment focuses on managing the symptoms, particularly seizures:
Antiepileptic drugs (AEDs): Medications like valproic acid, levetiracetam, and clonazepam are commonly used to control seizures. However, seizure control can be challenging, and some AEDs may exacerbate myoclonus.
Other medications: Medications may be used to manage specific symptoms such as depression or psychosis.
Is Communicable
No, Lafora disease is not communicable. It is a genetic disorder caused by inherited gene mutations and cannot be transmitted from person to person.
Precautions
Since Lafora disease is genetic, precautions focus on genetic counseling for families with a history of the disease.
Genetic counseling: Couples with a family history of Lafora disease should consider genetic counseling to understand the risk of having a child with the condition.
Prenatal testing: Prenatal testing is available to determine if a fetus is affected.
Symptom management: Precautions to minimize injury during seizures are important. This includes having a safe environment and educating caregivers on how to respond during a seizure.
How long does an outbreak last?
Lafora disease is not an outbreak-related illness. It is a chronic, progressive disease. The disease progresses steadily after symptom onset.
How is it diagnosed?
Diagnosis of Lafora disease involves:
Clinical evaluation: Based on the presence of characteristic symptoms, such as myoclonic seizures and progressive neurological decline, typically starting in adolescence.
Electroencephalogram (EEG): An EEG may show characteristic abnormalities, such as photosensitivity (seizures triggered by flashing lights) and generalized slow wave activity.
Neuroimaging: MRI of the brain may show atrophy (shrinkage) in later stages of the disease.
Skin biopsy: A skin biopsy can confirm the presence of Lafora bodies in sweat gland cells. This is a relatively non-invasive diagnostic test.
Genetic testing: Genetic testing to identify mutations in the EPM2A or *NHLRC1* genes (or rarely, other genes) is the most definitive diagnostic test.
Timeline of Symptoms
The timeline of symptoms varies, but a typical progression is as follows:
Early adolescence (12-17 years): Seizures (myoclonic, generalized tonic-clonic), visual disturbances.
Late adolescence/early adulthood: Cognitive decline (memory problems, difficulty concentrating), ataxia, dysarthria.
Adulthood: Progressive neurological deterioration, including worsening seizures, severe cognitive impairment, and loss of motor skills. The disease usually leads to death within 10 years of diagnosis or symptom onset.
Important Considerations
Progressive nature: Lafora disease is a relentlessly progressive disease, and there is currently no cure.
Supportive care: Focus on providing supportive care to improve the patient's quality of life and manage symptoms.
Family support: Lafora disease has a significant impact on the entire family. Support groups and counseling can be beneficial.
Research: Ongoing research is aimed at understanding the underlying mechanisms of Lafora disease and developing new treatments.
Differential diagnosis: It's important to rule out other causes of progressive myoclonic epilepsy.