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Mitochondrial Diseases

Mitochondrial Diseases



Overview

Mitochondrial diseases are a group of conditions that affect how mitochondria work in your body. Mitochondria make energy in your cells. When mitochondria aren’t able to produce enough energy that your body needs, it affects how your organs function.

Mitochondrial diseases can affect almost any part of your body, including the cells of your:

Brain.

Nerves.

Muscles.

Kidneys.

Heart.

Liver.

Eyes.

Ears.

Pancreas.

What are the types of mitochondrial disease?

There are many types of mitochondrial diseases. Some of the most common include:

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.

Leber hereditary optic neuropathy (LHON).

Leigh syndrome.

Kearns-Sayre syndrome (KSS).

Myoclonic epilepsy and ragged-red fiber disease (MERRF).

Symptoms

Symptoms of mitochondrial diseases vary based on the type and location of the affected cells. They can range from mild to severe and could include:

Poor growth.

Muscle weakness, muscle pain or a low muscle tone.

Vision and/or hearing loss.

Developmental delays or issues with cognitive development.

Diarrhea or constipation.

Unexplained vomiting.

Acid reflux and/or swallowing difficulties.

Seizures.

Migraines.

Respiratory (breathing) problems.

Fainting.

Symptoms of mitochondrial diseases can be present at birth, but they can also arise at any age. A healthcare provider usually detects symptoms affecting more than one organ or organ system at the same time. Symptoms of the same disease can vary from person to person, even among family members.

Causes

A lack of energy production from mitochondria in your cells causes mitochondrial disease. Mitochondria are responsible for producing energy within your body. When your mitochondria don’t receive the instructions they need from your body’s DNA to make energy, it can damage your cells or cause them to die early. This affects how your organs and organ systems function, which leads to symptoms of the condition.

Risk factors

You’re more at risk of developing a mitochondrial disease if it runs in your biological family history or if you have a condition that causes secondary mitochondrial dysfunction. Mitochondrial disease affects both adults and children

Complications

Mitochondrial diseases affect how your organs function. It can cause the following complications:

Increased risk of infection.

Strokes.

Pancreatic failure.

Parathyroid failure.

Diabetes.

Liver failure.

Cardiomyopathy.

Kidney disease.

Dementia.

Gastrointestinal conditions.

Drooping eyelid (ptosis).

Complications can be life-threatening.

Diagnosis 

A healthcare provider will diagnose a mitochondrial disease after a series of examinations and tests that may include:

A review of your medical and family history.

A complete physical examination.

A neurological examination.

A metabolic examination that includes blood and urine tests and, if needed, a cerebrospinal fluid test (spinal tap).

DNA testing.

Other tests, depending on your symptoms and the affected areas of your body, might include:

Magnetic resonance imaging (MRI) or spectroscopy (MRS) for neurological symptoms.

Retinal exam or electroretinogram (ERG) for vision symptoms.

Electrocardiogram (EKG) or echocardiogram for symptoms that affect your heart.

Audiogram for hearing symptoms.

Electroencephalogram (EEG) for seizures and related brain issues.

More advanced testing could include biochemical testing, which looks for changes in body chemicals involved in energy making. A healthcare provider may perform a biopsy where they take a sample of skin and/or muscle tissue to examine it under a microscope.

Treatment

Treatment for a mitochondrial disease varies based on the type and your symptoms. Treatment could include:

Taking medications to reduce symptoms, like medications to prevent seizures.

Taking vitamins or supplements, like riboflavin, coenzyme Q10 and carnitine.

Changing your diet (nutrition) and exercising.

Physical therapy, occupational therapy or speech therapy.

Wearing assistive devices like hearing aids.

There’s no cure for mitochondrial disease. Treatment focuses on preventing life-threatening complications. Treatment that works for one person may differ from what works to treat someone else with the same condition.

Type of Doctor Department : Metabolic Specialist, Geneticist, or Neurologist

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