Leigh disease, also known as Leigh syndrome, is a rare and progressive genetic neurological disorder that primarily affects the central nervous system, particularly the brainstem and the regions responsible for movement and balance control.
First discovered by Denis Archibald Leigh, a British neuropsychiatrist, in 1951, Leigh disease is typically diagnosed in infancy or early childhood and is caused by genetic mutations affecting the mitochondrial DNA. Mitochondria are responsible for producing the energy needed by cells, especially nerve cells, to function properly. In Leigh disease, these mutations disrupt the normal functioning of the mitochondria, leading to a deficiency in energy production and subsequent damage to the brain and nervous system.
The symptoms of Leigh disease often include progressive loss of motor skills, muscle weakness, poor muscle tone, and difficulty with movement coordination. Individuals with Leigh disease may also experience respiratory problems, feeding difficulties, delayed growth, seizures, and vision or hearing impairments. Symptoms may worsen over time, resulting in cognitive decline, regression, and ultimately, life-threatening complications.
Treatment for Leigh disease is primarily supportive and aimed at managing symptoms. This may involve physical and occupational therapy to maintain mobility and improve muscle tone, specialized diets, vitamin or coenzyme supplements, and medications to control seizures or other related symptoms. Unfortunately, the prognosis for individuals with Leigh disease is generally poor, as the disorder is progressive and often leads to significant disability or premature death.
