Leigh syndrome
About
Leigh syndrome is a group of mitochondrial diseases caused by mutations in mitochondrial or nuclear DNA and characterized by subacute necrotizing encephalopathy. It is one of the most serious mitochondrial diseases in children. Core dilemmas: ① Multiple systems are involved and there is no specific treatment;② The disease progresses rapidly and the prognosis is extremely poor;③ Current treatment can only temporarily relieve symptoms;④ Gene therapy is in the early research stage.
Features & Symptoms
- mitochondrial disease
- subacute necrotizing encephalopathy
- Onset in infancy or childhood
- Progressive neurological degeneration
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| mitochondrial cocktail therapy | Including thiamine (vitamin B1), riboflavin (vitamin B2), coenzyme Q10, L-carnitine, etc., can temporarily relieve symptoms. | 临床应用 | $30K - $80K/年 |
| Sodium dichloroacetate (DCA) | Pyruvate dehydrogenase activators may be effective in some patients, but may aggravate peripheral neuropathy. | 个案报道 | $20K - $50K/年 |
| gene therapy | AAV vectors that deliver normal mitochondrial genes are currently in the early stages of research. | 临床前/Phase I | $1M - $3M/次（一次性） |
Prognosis
Died within 2-3 years after the onset of the disease, and a few can survive into teenagers
Additional Notes
Notes: Metabolic management: Need to avoid metabolic stress (such as infection, fasting, surgery), calorie intake needs to be increased immediately when infected; respiratory management: brainstem involvement can lead to central hypoventilation, requiring regular sleep breathing monitoring; lactic acid monitoring: Regularly monitor blood lactate and cerebrospinal fluid lactate levels, acute elevations require urgent treatment; experimental treatment with thiamine: Some patients respond to large doses of thiamine (vitamin B1), and experimental treatment is recommended; genetic testing recommends: It is recommended to conduct mitochondrial DNA and nuclear DNA mitochondrial gene testing to clarify molecular diagnosis. Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Research stage: Clinical application. Prognosis: Death within 2-3 years after the onset of the disease, and a few can survive into teenagers.
Frequently Asked Questions
What is Leigh syndrome?
Leigh syndrome is a group of mitochondrial diseases caused by mutations in mitochondrial or nuclear DNA and characterized by subacute necrotizing encephalopathy. It is one of the most serious mitochondrial diseases in children. Core dilemmas: ① Multiple systems are involved and there is no specific treatment;② The disease progresses rapidly and the prognosis is extremely poor;③ Current treatment can only temporarily relieve symptoms;④ Gene therapy is in the early research stage.
What are the symptoms of Leigh syndrome?
mitochondrial disease,subacute necrotizing encephalopathy,Onset in infancy or childhood,Progressive neurological degeneration
How is Leigh syndrome treated?
mitochondrial cocktail therapy: Including thiamine (vitamin B1), riboflavin (vitamin B2), coenzyme Q10, L-carnitine, etc., can temporarily relieve symptoms.; Sodium dichloroacetate (DCA): Pyruvate dehydrogenase activators may be effective in some patients, but may aggravate peripheral neuropathy.; gene therapy: AAV vectors that deliver normal mitochondrial genes are currently in the early stages of research.
What is the prognosis for Leigh syndrome?
Died within 2-3 years after the onset of the disease, and a few can survive into teenagers