The Lockdown of a Disease. What are mitochondrial diseases?
Mitochondrial diseases are chronic (long-term), genetic, disorders that occur when mitochondria fail to produce enough energy for the body to function properly. Mitochondrial diseases can be present at birth but can also occur at any age.
Mitochondrial diseases can affect almost any part of the body, including the cells of the brain, nerves, muscles, kidneys, heart, liver, eyes, ears, or pancreas.
How common are mitochondrial diseases?
One in 5,000 individuals has a genetic mitochondrial
disease. Each year, about 1,000 to 4,000 children in the United States are born
with a mitochondrial disease. With the number and type of symptoms and organ
systems involved, mitochondrial diseases are often mistaken for other, more
common, diseases.
SYMPTOMS
Poor growth. Muscle weakness, muscle pain, low muscle tone, exercise intolerance.
Vision and/or hearing problems. Learning disabilities,
delays in development, mental retardation. Autism, autism-like features. Heart,
liver or kidney diseases.
Gastrointestinal disorders, swallowing difficulties, diarrhoea
or constipation, unexplained vomiting, cramping, reflux. Diabetes. Increased
risk of infection.
Neurological problems, seizures, migraines, strokes. Movement
disorders. Thyroid problems. Respiratory (breathing) problems. Lactic acidosis
(a build-up of lactate).
TREATMENT
Treatment varies from patient to patient and depends on the specific mitochondrial disease diagnosed and its severity. However, there's no way to predict a patient’s response to treatment or predict how the disease will affect that person in the long run. No two people will respond to the same treatment in the same way, even if they have the same disease.
Mitochondrial Disease Organizations
United Mitochondrial Disease Foundation (UMDF) https://www.umdf.org/
Organic Acidemia Association https://www.oaanews.org/
Fatty Oxidation Disorder Support Group https://fodsupport.org/
