From the Guidelines
Leigh Syndrome is characterized by a distinct set of symptoms including developmental delay, weakness, lack of muscle tone, movement disorders, difficulty swallowing, seizures, and respiratory problems, which are a result of mitochondrial dysfunction affecting energy production in cells, particularly in the central nervous system. These symptoms can vary in severity and combination among patients, depending on the genetic cause and other factors 1.
Common Symptoms
- Developmental delay or regression
- Weakness
- Lack of muscle tone
- Movement disorders
- Difficulty swallowing
- Seizures
- Respiratory problems
- Poor growth
- Vomiting
- Irritability
- Vision and hearing impairments, which may develop as the disease progresses The symptoms of Leigh Syndrome usually begin in infancy or early childhood, though some cases may appear later in childhood or even adulthood 1. The progression of the disease varies but often includes periods of rapid decline triggered by infections or other stressors. Characteristic brain abnormalities appear on MRI, particularly in the basal ganglia, thalamus, and brainstem.
Disease Progression
The disease progression is influenced by the genetic cause, with some patients experiencing a more rapid decline than others. Infections or other stressors can trigger periods of rapid decline, highlighting the importance of early recognition and supportive care.
Importance of Early Recognition
Early recognition of the symptoms of Leigh Syndrome is crucial for diagnosis and supportive care, though there is currently no cure for the disease. A comprehensive understanding of the symptoms and their progression can help guide clinical decision-making and improve patient outcomes.
From the Research
Symptoms of Leigh Syndrome
The symptoms of Leigh Syndrome, a Subacute Necrotizing Encephalomyelopathy, are characterized by a wide variety of abnormalities, including:
- Severe neurologic problems
- Psychomotor retardation
- Seizures
- Nystagmus
- Ophthalmoparesis
- Optic atrophy
- Ataxia
- Dystonia
- Respiratory failure 2
- Peripheral nervous system involvement, including polyneuropathy or myopathy
- Non-neurologic abnormalities, such as diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea 2
Clinical Manifestations
Clinical manifestations of Leigh Syndrome may include:
- Developmental delay
- Nervous system dysfunction
- Respiratory abnormalities, such as aspiration, wheezing, breathing difficulties, gasping, hypoventilation, and apnoea 3
- Rapid deterioration of cognitive and motor functions, resulting in death due to respiratory failure 4
- Refractory seizures, which may further complicate morbidity and mortality 5
Age of Onset
The age of onset of Leigh Syndrome can vary, with: