MITOCHONDRIAL DISEASE ASSOCIATED SEIZURES (MDAS)

refractory seizures in patients with inherited mitochondrial disease.

aadc dopamine deficiency
75 %

Exhibited
Developmental Delay

35 %

Experience
Seizures

1

Cases
per 5,000

1

Onset Can
Arise Any Age

Group of Rare Genetic Conditions

Mitochondrial Disease Associated Seizures (MDAS)

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.

Mitochondrial Disease Associated Seizures
Mitochondrial Disease Associated Seizures

Mitochondrial Disease Associated Seizures (MDAS) Symptoms

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:

  • 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
  • Unexplained vomiting
  • Seizures – Mitochondrial disease associated seizures (MDAS)

The symptoms can occur for a variety of reasons, but are often result of:

  • Respiratory system problems
  • Weak heart muscles (Cardiomyopathy)
  • Irregular heartbeat (Arrhythmia)
  • Gastrointestinal problems
  • Diabetes
  • Kidney problems
  • Pancreas problems
  • Brain abnormalities

Not all patients with mitochondrial disease experience seizures. The most common forms of MD that cause seizures include:

  • Neuropathy, ataxia, and retinitis pigmentosa (NARP) 
  • Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
  • Myoclonus epilepsy with ragged red fibers (MERRF)
  • Leigh syndrome (MILS, or maternally inherited Leigh syndrome)
  • Kearns-Sayre syndrome – Seizures are rare but may still occur
Mitochondrial Disease Associated Seizures (MDAS)

Causes

Mitochondrial Disease Associated Seizures
(MDAS) Diagnosis

Mitochondrial diseases are hereditary but notorisously complex and often difficult to trace through a family tree. Diagnosis typically starts with physical and neurological examinations, as well as an evaluation of medical and family history. In addition to these preliminary examinations doctors may choose to carried out a series of other tests to accurately confirm disgnosis.

Mitochondrial Disease Associated Seizures
(MDAS) Treatments

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).

Medications

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 Treatments

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.

Have questions?

Mitochondrial Disease Associated Seizures (MDAS) Frequently Asked Questions

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:

  • Neuropathy, ataxia, and retinitis pigmentosa(NARP) 
  • Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
  • Myoclonus epilepsy with ragged red fibers (MERRF)
  • Leigh syndrome (MILS, or maternally inherited Leigh syndrome)
  • Kearns-Sayre syndrome – Seizures are rare but may still occur
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