Mitochondrial diseases are a group of rare conditions in which the body’s mitochondrial function causes cells to produce an insufficient amount of energy. This can lead to a wide number of different symptoms and resulting medical conditions, several forms of which can induce refractory seizures in patients.
Mitochondrial Disease Associated Seizures (MDAS) can occur in any form, from simple or complex partial seizures, to epilepsy related, and can vary in severity.
Signs and symptoms of AADC deficiency generally appear in the first year of life. Babies and kids with AADC deficiency have developmental delays, weak muscle tone, and movement disorders. They can get other symptoms, too, like droopy eyelids, stiff muscles, and stomach problems.
Symptoms vary but typically include one or more of the following:
The symptoms can occur for a variety of reasons, but are often result of:
Not all patients with mitochondrial disease experience seizures. The most common forms of MD that cause seizures include:
Unfortunately, there isn’t a cure for to MD date but treatments have advanced to the stage where some life-threatening complications can be delayed or even prevented. This is especially true when it comes to some forms of Mitochondrial disease associated seizures (MDAS).
There are many effective medications, such as anticonvulsants and those developed to treat epilepsy, that can also treat and even prevent seizures (and migraines).
New cures and treatments are also being researched, some with promising results. Some of these medications focus on bypassing the defective mitochondria, as opposed to fixing specific complications of the disease.
These treatments are based on three natural substances, creatine, carnitine, and coenzyme Q10 (also known as CoQ10 or ubiquinone), all of which are involved in the essential production of ATP.
Signs and symptoms of MD include:
Poor growth, Acid reflux and/or swallowing difficulties, Developmental delays or issues with cognitive development, Diarrhea or constipation, Fainting, Migraines, Muscle weakness, muscle pain or a low muscle tone, Respiratory (breathing) problems, Vision and/or hearing loss, vomiting, and of course Seizures – Mitochondrial disease associated seizures (MDAS).
Mitochondrial Disease is hereditary, however the process by which the condition is passed down from parent to child is complex and may not yet full understood.
The life expectancy of someone diagnosed with MD can vary greatly depending on the severity of the condition. Some patients may live just a few years following diagnosis, however others can survive for dozens years.
Although reports on the number of patients with MD are thought to be underestimated, mainly as a result of misdiagnosis due to the number of symptoms associated with other diseases, experts claim around 1 in every 5,000 people develop the condition.
Note: In North America a rare disease classification is given when the condition affects 1 in every 1,500 individuals.
The most common forms of MD that cause seizures include: