Leigh’s Disease

Disease database

Leigh’s Disease, also known as Leigh syndrome, is a rare and progressive neurological disorder that primarily affects infants and young children. It is a devastating condition that can lead to severe disability and even death. Understanding the symptoms, causes, and potential treatments for Leigh’s Disease is crucial for both affected individuals and their families.

Leigh’s Disease Symptoms: Loss of Motor Skills

One of the hallmark symptoms of Leigh’s Disease is the loss of motor skills. Infants and children with this condition may experience a gradual decline in their ability to control their movements. They may have difficulty sitting, standing, or walking, and their coordination may be significantly impaired.

Muscle Weakness

In addition to the loss of motor skills, Leigh’s Disease often causes muscle weakness. This weakness can affect various muscle groups in the body, leading to difficulties in performing everyday tasks. Simple actions like grasping objects or lifting limbs may become challenging for individuals with this condition.


Seizures are another common symptom of Leigh’s Disease. These seizures can vary in severity and frequency, ranging from mild episodes to more severe convulsions. Seizures can further contribute to the decline in motor skills and overall quality of life for individuals with this condition.

Respiratory Problems

Leigh’s Disease can also affect the respiratory system, leading to breathing difficulties. Individuals may experience shallow or rapid breathing, which can result in decreased oxygen levels in the body. Respiratory problems can further exacerbate the already challenging symptoms associated with this disease.

Vision and Hearing Loss

Another devastating aspect of Leigh’s Disease is the potential for vision and hearing loss. Affected individuals may experience a gradual decline in their ability to see and hear, which can significantly impact their overall sensory experience and quality of life.

Developmental Delays

Developmental delays are common in individuals with Leigh’s Disease. These delays can affect various aspects of a child’s growth, including physical, cognitive, and social development. Milestones such as speech, learning, and social interactions may be significantly delayed or impaired.

Cognitive Impairment

Leigh’s Disease can also lead to cognitive impairment. Individuals may experience difficulties with memory, attention, and problem-solving skills. The severity of cognitive impairment can vary, but it often has a significant impact on the individual’s ability to learn and function independently.

Treatment and Management

Currently, there is no known cure for Leigh’s Disease. However, various treatment options and management strategies can help improve the quality of life for affected individuals. It is essential to work closely with a team of healthcare professionals, including neurologists, geneticists, and therapists, to develop a comprehensive treatment plan.

Supportive Care

Supportive care plays a crucial role in managing Leigh’s Disease. This includes addressing the specific symptoms and complications associated with the condition. For example, physical therapy can help maintain muscle strength and mobility, while speech therapy can assist with communication difficulties.

Dietary Interventions

Some individuals with Leigh’s Disease may benefit from specific dietary interventions. These can include a high-calorie diet, supplements, and avoiding triggers that may worsen symptoms. Working with a registered dietitian can help ensure that the individual’s nutritional needs are met.

Genetic Counseling

Since Leigh’s Disease is often caused by genetic mutations, genetic counseling can be beneficial for affected individuals and their families. Genetic counselors can provide information about the inheritance patterns, recurrence risks, and available genetic testing options.

Research and Clinical Trials

Researchers are continually exploring potential treatments and interventions for Leigh’s Disease. Participating in clinical trials can provide individuals with access to experimental therapies and contribute to the advancement of medical knowledge in this field. It is essential to discuss these options with healthcare professionals.


Leigh’s Disease is a devastating neurological disorder that affects infants and young children. The loss of motor skills, muscle weakness, seizures, respiratory problems, vision and hearing loss, developmental delays, and cognitive impairment are all significant symptoms associated with this condition. While there is currently no cure, supportive care, dietary interventions, genetic counseling, and participation in research and clinical trials can help manage the symptoms and improve the quality of life for affected individuals. It is crucial to seek early diagnosis and work closely with healthcare professionals to provide the best possible care and support for individuals with Leigh’s Disease.

Haroon Rashid, MD
Rate author
Urgent Care Center of Arlington, VA
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