Lafora disease is an unusual and fatal genetic type of epilepsy that typically starts to emerge in the teens. Patients inherit this condition through recessive genes, meaning that they need a copy of the defective gene from each parent in order to develop symptoms. Patients typically die within a decade of diagnosis because this condition is progressive and will grow worse over time. Treatments focus on managing the symptoms and making the patient feel more comfortable, as no cure is available.
Patients with Lafora disease develop progressive myoclonic epilepsy, usually in their mid-teens, although sometimes the onset of symptoms is earlier or later. The patient can experience hallucinations, seizures, muscle convulsions, and difficulty with muscle coordination. Patients also develop dementia and may exhibit disorganized thinking, poor impulse control, and bad memory. As the disease progresses, the patient's symptoms will grow much worse.
The genes responsible for Lafora disease reside on the sixth chromosome. Patients with this disease develop abnormal structures known as Lafora bodies inside their cells. A doctor can identify the structures with the assistance of a biopsy. Doctors commonly request a skin biopsy in a patient with suspected Lafora disease, but it is also possible to use brain or liver biopsies. To confirm the test results, the doctor may recommend some genetic testing.
Genetic testing can also be important for treatment. Sometimes Lafora disease is the result of a random genetic mutation rather than an inherited trait. If this is the case, the patient may respond differently to treatment. The doctor may recommend treatments like anticonvulsive medication, therapy to help patients manage their epilepsy, and medications to address the muscle contractions. Patients with Lafora disease will develop increasing cognitive impairments over time and may eventually require hospitalization.
When a child receives a Lafora disease diagnosis, it may be upsetting for parents. Genetic testing can help parents determine if the disease is random or the result of inheritance, and they can meet with a genetic counselor to discuss their options if they have or plan to have additional children. It may also help to join a Lafora support group, where parents will have an opportunity to exchange advice and information with other parents and patients. Research into Lafora disease is ongoing, and it may be possible to enroll in clinical trials to try new treatments like experimental medications that are not yet available to members of the general public.