Leigh Syndrome, also known as subacute necrotizing Encephalomyelopathy (SNEM), is a rare genetic disorder that primarily affects the central nervous system. It belongs to a group of conditions known as mitochondrial diseases, which are caused by malfunctioning or mutations in the mitochondria, the energy-producing structures within cells.
The primary features of Leigh Syndrome include progressive degeneration of the brain and central nervous system, leading to severe neurological impairments. Symptoms typically appear within the first months or years of life and may include muscle weakness, poor muscle tone (hypotonia), loss of motor skills, seizures, respiratory difficulties, and impaired eye movements. In some cases, feeding difficulties and failure to thrive can also occur.
The condition is caused by mutations in various genes involved in the synthesis and function of mitochondrial proteins. These mutations disrupt the normal energy production process, resulting in the accumulation of toxic substances in the brain and other affected organs.
The prognosis for Leigh Syndrome is generally poor, as the condition is progressive and often fatal. Treatment primarily focuses on symptom management and supportive care, with no known cure available. Therapies such as physical, occupational, and speech therapies may be employed to address specific impairments, depending on the individual's needs.
Due to its multisystem involvement and severe neurological manifestations, Leigh Syndrome presents significant challenges for affected individuals and their families. Genetic counseling is recommended for families affected by Leigh Syndrome to understand the risk of inheritance in future pregnancies. Research efforts are ongoing to better understand the underlying pathophysiology of the condition and explore potential treatment options.
