Leigh Syndrome – What is it, Symptoms and Treatments
Leigh Syndrome – What it is, Symptoms and Treatments that are little known. In addition, Leigh Syndrome is a serious neurological disorder that usually manifests during the first year of life. However, a small number of individuals do not show any symptoms of Leigh Syndrome until adulthood, or they slowly get worse over time.
Leigh syndrome is characterized by a delay and progressive loss of mental and motor skills, usually leading to death in the first two to three years of life, usually due to respiratory failure.
Causes of Leigh Syndrome: Leigh Syndrome is caused by mutations in mitochondrial DNA or nuclear DNA (SURF1 gene) Leigh Syndrome can be inherited mainly from the mother since it is from the mother that we inherit our mitochondrial genes and even though she do not have Leigh Syndrome you can be a carrier if any woman in your family already has Leigh Syndrome .
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Therefore, it is highly recommended for anyone who has cases of Leigh Syndrome in the family to do genetic counseling to find out how likely they are to have a child with Leigh Syndrome .
Symptoms of Leigh Syndrome: The first symptoms of Leigh Syndrome usually appear before the age of 2 years with loss of skills that had already been acquired. Therefore, depending on the age of the child, the first signs of Leigh Syndrome can include loss of abilities such as holding the head, suckling, walking, talking, running or eating.
In addition, other very common symptoms of Leigh Syndrome include:
- loss of appetite;
- frequent vomiting;
- Excessive irritability;
- Seizures;
- Delay in development;
- Difficulty gaining weight;
- Decreased strength in arms or legs;
- Muscle tremors and spasms;
How Leigh Syndrome is Diagnosed: It is possible to diagnose Leigh Syndrome in prenatal care if the mutation is found in the nuclear DNA. In cases where the affected gene is found in mitochondrial DNA, such a diagnosis is not possible due to the phenomenon of heteroplasmy.
Treatment of Leigh Syndrome: Unfortunately, there is still no definitive treatment for Leigh Syndrome , requiring a detailed evaluation by the pediatrician to adapt the treatment to each child and their respective symptoms.
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A multidisciplinary team is often needed for each associated Leigh Syndrome symptom , such as a cardiologist for heart growth problems, a neurologist for cognitive problems, among others, however, in most cases vitamin B1 is used to treat treat the neurological symptoms of Leigh Syndrome , as this vitamin helps in protecting the nervous system, slowing down the progression of the disease and improving the symptoms of Leigh Syndrome .