Lee Disease

Lee's Disease: Rare neurological disease

Lee's disease, also known as subacute necrotizing encephalomyelopathy, is a rare neurological disease named after British neurologist D. Lee. The disease usually begins in early childhood and is characterized by progressive motor impairment and damage to the nervous system.

Lee's disease is caused by genetic mutations that affect mitochondria, the energy organelles inside cells. Normally functioning mitochondria are needed to provide energy to nerve cells, but when mutations are present, they do not perform their function properly. This leads to a buildup of toxic substances in the brain and spinal cord, causing damage to nerve cells.

Symptoms of Leigh's disease may include psychomotor delay, muscle weakness, tremors, problems swallowing, changes in vision, and breathing problems. Patients often experience seizures, which may be caused by physical or emotional stress. Due to the progressive nature of the disease, patients with Leigh's disease usually worsen over time.

The diagnosis of Leigh disease is based on clinical symptoms, neurological examination, and genetic testing to identify mutations associated with the disease. Although there is no specific treatment for Leigh's disease, symptomatic support techniques are available to improve patients' quality of life. Physical therapy, occupational therapy, and speech therapy can help improve motor skills and communication.

Because Leigh disease is a rare disease, information about it is limited and research in this area is ongoing. It is important to support patients and their families by providing information, support and access to specialist services.

In conclusion, Leigh disease is a rare neurological disorder characterized by progressive motor impairment and damage to the nervous system. Support and education for patients and their families are important aspects of managing this condition. Although there is no specific treatment, symptomatic support and rehabilitation measures can help improve the quality of life of patients with Leigh disease. Further research in this area is needed to better understand the causes and mechanisms of the disease, as well as to develop new approaches to treat and manage this condition.