Are there treatments for Leigh syndrome?
Leigh syndrome treatment are focused on keeping children comfortable and slowing disease progression.
Specific types of Leigh syndrome have specific, targeted treatments. These include biotin-thiamine responsive basal ganglia disease, caused by mutations in SLC19A3 gene, which may be treated with high doses of thiamine and biotin, or pyruvate dehydrogenase deficiency, which may be treated with a ketogenic diet and thiamine.
Often, children have difficulties chewing and swallowing and in addition have an increased calorie requirement, and it can be difficult to take in sufficient calories by mouth. A feeding tube – also known as Gastrostomy Tube (G-Tube) – can be really helpful in improving calorie intake and reducing the time needed for feeds. While a G-tube can seem frightening and invasive, it is commonly done for children with many different health conditions in order to optimize growth and nutrition, especially during times of illness.
Some supplements may be suggested by healthcare professionals, such as
- Coenzyme Q10
- α-lipoic acid
There is no definitive research that shows one medication or supplement to be superior to another, and so there may be some variability even among experts in the types of medications offered.
The care team for a person with Leigh syndrome may include multiple specialists.
Mito specialist is usually the main doctor who oversees a patient’s care and can make appropriate referrals to other specialists. A mito specialist is usually either a geneticist/metabolic doctor or a neurologist.
Geneticist/Metabolic doctors diagnose Leigh syndrome and provide counseling regarding inheritance patterns, treatment options, and potential implications. They contribute to research and collaborate with other healthcare providers to develop personalized treatment plans based on the patient’s specific genetic profile.
Please note that each individual will need to see specialists depending on their own symptoms, therefore you may not need to see all specialists shown here.
The role of the PCP is to treat general conditions and to refer patients to hospitals and other specialists.
Many children with Leigh syndrome are tube fed and are on special diets. Dieticians or nutritionists provide guidance and counseling on most optimal nutrition.
Physiotherapists help improve physical abilities, mobility, and strength through exercises, stretching, and specialized techniques. They may also recommend and assist with the use of mobility aids or orthotics.
Speech therapists help people improve their communication skills, addressing speech, language, voice, and swallowing issues through assessments, customized treatment plans, and therapy techniques.
Feeding specialists evaluate and treat feeding and swallowing difficulties, addressing challenges related to oral motor skills, sensory processing, and behavioral aspects of feeding to ensure safe and adequate nutrition.
Psychologists help patients cope with their condition, manage emotional challenges, and support their overall well-being, as well as support the entire family.
Psychiatrists treat anxiety, depression, or other mental health disorders through therapy and medications.
Physical medicine and rehabilitation doctors (physiatrists) use a holistic approach that combines physical therapies, medications, and personalized treatment plans to improve patients’ quality of life and restore functional abilities.
Occupational therapists may provide interventions to improve fine motor skills, sensory integration, self-care tasks, and adaptations to the environment.
Palliative care doctors provide specialized medical care and emotional support focused on relieving symptoms, managing pain, and enhancing quality of life.
Leigh Syndrome and Infections
In some cases, Leigh syndrome can be triggered or worsened by infections, particularly respiratory infections like the flu or pneumonia. This is because infections can put additional stress on the body and exacerbate the symptoms of Leigh syndrome. People with Leigh syndrome may also be more vulnerable to infections because their immune systems are weakened by the condition.
While it is important to take reasonable precautions to prevent infections-such as diligent hand washing, and remaining up to date with all age-recommended vaccinations- it is not possible or recommended that you try to shield your child from any and all possible infections or germs in the environment. It is important to seek medical attention promptly if an infection does occur.
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Leigh Syndrome and Emergencies
Please download a fillable PDF below that you can print out or save on your phone and have available in case of emergencies.
Additionally, your physician may provide a personalized letter to provide guidance to doctors in the emergency situation.
Are There Clinical Trials?
Clinical trials are research trials for new or existing medications that are designed to test whether or not, and how, a proposed treatment works. By the time a clinical trial is ready for enrollment, the proposed treatment will have been tested for safety. Participating in a clinical trial may offer a chance to try a new or developing Leigh Syndrome treatment, and it is a way to contribute to clinical research.