What Is a Mitochondrial Disorder?

A mitochondrial disorder is a term used to describe any number of diseases caused by damage to a part of the nerve cells known as mitochondria. This type of disorder can lead to any number of symptoms, including epilepsy, muscle weakness, or nausea. More severe symptoms of a mitochondrial disorder may include vision problems, movement disorders, or damage to the heart. The exact symptoms as well as the severity of the symptoms vary from person to person and are clinically managed as they begin to cause problems. Any specific questions or concerns relating to an individual mitochondrial disorder should be discussed with a doctor or other medical professional.

The mitochondria are the parts of a cell that are responsible for providing energy to the cell so that it can fulfill its individual purpose. A mitochondrial disorder occurs when this part of the cell, particularly a nerve cell, is unable to work properly. This type of disorder can be inherited or occur due to a spontaneous genetic mutation and can take on several forms. Signs and symptoms can be widely varied, so there are no standard treatment options available. Instead, each symptom is evaluated and treated on an individual basis.

Muscle weakness and a lack of coordination are commonly found among those who have a mitochondrial disorder. These symptoms can vary in severity from mild movement problems to completely debilitating. Children who are born with a mitochondrial disorder often exhibit poor growth patterns as well. Neurological issues such as epilepsy or other seizure disorders may develop in many mitochondrial diseases.

Visual and auditory disturbances may occur in some patients with a mitochondrial disorder. This may involve a slight reduction in the ability to see or hear, although complete blindness or deafness may occur in some instances. The thyroid gland or adrenal glands may not function properly, leading to a variety of hormonal issues. There may be a significant amount of organ damage, sometimes leading to kidney, liver, or heart failure.

Some patients who are born with a mitochondrial disorder may develop autism or symptoms that mimic autism. Developmental delays are common, often causing milestones such as crawling or walking to be significantly delayed. Learning disabilities occur in a high number of cases. Additional symptoms, such as confusion, memory loss, or disorientation, are frequently experienced by those who have this type of condition. Frequent infections may become a problem, usually due to compromised functioning of the immune system.