Lafora

Lafora disease is a rare, fatal, autosomal recessive genetic disorder characterized by the accumulation of insoluble, abnormal glycogen-like structures, called Lafora bodies, in the cells of the body. The disease is named after the Spanish neuropathologist Gonzalo Rodríguez Lafora, who first described the disease in 1911.

Symptoms

The onset of Lafora disease typically occurs in late childhood or early adolescence, usually between the ages of 6 and 19. Initial symptoms often include seizures and myoclonus, a condition characterized by rapid, involuntary muscle jerks. As the disease progresses, affected individuals may develop a variety of neurological symptoms, including dementia, ataxia, and dysarthria.

Causes

Lafora disease is caused by mutations in the EPM2A or NHLRC1 gene. These genes provide instructions for making proteins that are involved in the breakdown of glycogen, a complex sugar that provides energy for the body. Mutations in these genes disrupt the normal breakdown of glycogen, leading to the accumulation of Lafora bodies in the cells of the body.

Diagnosis

The diagnosis of Lafora disease is typically based on the presence of characteristic clinical features and the identification of Lafora bodies in a skin or muscle biopsy. Genetic testing can also be used to confirm the diagnosis.

Treatment

There is currently no cure for Lafora disease, and treatment is primarily supportive. Medications may be used to manage seizures and other neurological symptoms. Physical therapy may also be beneficial for managing muscle stiffness and improving mobility.

Prognosis

The prognosis for individuals with Lafora disease is generally poor. Most affected individuals do not survive beyond their mid-20s due to the progressive nature of the disease.

See also

• Glycogen storage disease
• Progressive myoclonus epilepsy

References

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