What is Lafora's illness?
Lafora The disease is an unusual and fatal genetic type of epilepsy, which usually begins to appear in adolescents. Patients inherit this by this condition through recessive genes, which means they need a copy of a defective gene from each parent to develop symptoms. Patients usually die over a decade of diagnosis because this condition is progressive and deteriorates over time. Treatment focuses on mastering symptoms and causing the patient to feel more comfortable because there is no medicine. The patient may experience hallucinations, seizures, muscle spasms and muscle coordination problems. Patients also develop dementia and show disorganized thinking, poor impulse control and poor memory. As the disease progresses, symptoms of the patient worsen.
The genes responsible for the lforao -illumination are based on the sixth chromosome. Patients with this disease develop abnormal structures known as the body of the body within their cells. A physician can identify structures using biopsIE. Doctors usually require skin biopsy in a patient with a suspicious Lafora disease, but it is also possible to use brain or liver biopsy. To confirm the test results, the doctor may recommend some genetic testing.
genetic testing can also be important for treatment. Sometimes Lafora's disease is the result of a random genetic mutation rather than inherited properties. If this is the case, the patient may respond differently to treatment. The doctor may recommend treatment as anticonvulsive medicines, therapy that helps patients to manage their epilepsy and medicines to solve muscle contractions. Patients with Lafor disease develop over time by increasing cognitive disorders and eventually require hospitalization.
When a child receives a diagnosis of Lafora, it can be worrying for parents. Genetic testing can help parents find out whether the disease is accidental or the result of an inheritance and may meet witha genetic advisor to discuss their possibilities if they have or plan to have other children. It can also help join the Lafora support group, where parents will have the opportunity to exchange advice and information with other parents and patients. Lafora disease research is underway and it is possible to enroll in clinical trials and try new treatment, such as experimental drugs that are not yet available to members of the general public.