Mitochondrial Disease

There’s no single test that can diagnose mitochondrial disease, and because it can affect so many parts of your body, it’s often confused for other conditions. That’s why it’s so important that we start by talking about exactly what you’re experiencing and how it’s affecting your life. This helps us figure out which tests to run and which specialists to bring into your care.

We’ll begin by asking questions about your symptoms, like:

• What symptoms you have.
• Whether they’ve gotten worse.
• How they affect your daily life.

After that, we’ll do:

• A review of your medical and family history.
• A complete physical exam.
• A neurological exam.
• A metabolic exam that includes blood and urine (pee) tests and, if needed, a spinal tap.
• DNA testing.

Depending on your symptoms, you might need other tests, like:

• A blood test to check for thyroid problems.
• A magnetic resonance imaging (MRI) or spectroscopy (MRS) to look for additional neurological symptoms.
• A retinal exam or electroretinogram (ERG) to test your vision symptoms.
• An electrocardiogram (EKG) or echocardiogram to look for heart disease.
• An audiogram or auditory-brainstem evoked responses (ABER) for hearing symptoms.

We may also take biopsies (samples) of skin and muscle tissue, or run more advanced tests like biochemical testing, which looks for changes in the body chemicals that are involved in making energy.

Types of this condition

Primary genetic mitochondrial disease is usually inherited, meaning it was passed on from your parents to you. You might’ve been diagnosed when you were born, or you could be dealing with a seemingly sudden diagnosis later in life. There are many types of primary mitochondrial disease, but some of the most common are:

• 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).

We also treat secondary mitochondrial dysfunction. This means that you weren’t born with mitochondrial disease, but your mitochondria have stopped working as well as they used to because of the effects of another condition. Secondary mitochondrial dysfunction could be related to conditions like Alzheimer’s disease, muscular dystrophy, Lou Gehrig’s disease (ALS), diabetes or cancer.

Meet Our Mitochondrial Disease Team

When you choose Cleveland Clinic, you’ll get a handpicked team of different providers from different specialties. They work together to make sure you get the treatment that matches your specific needs. Your team could include:

• Cardiologists.
• Endocrinologists.
• Gastroenterologists.
• Neurologists.
• Ophthalmologists.
• Pulmonary medicine specialists.
• Genomic medicine specialists (healthcare providers who incorporate information about your genome into your customized care plan).
• Genetic counselors.

Mitochondrial disease can affect any or every part of your body, so your experience with it may not be the same as someone else’s — even your parents or siblings. We take a hyper-personalized approach to make sure we know exactly how to treat you. That may include:

Medication

Your provider might prescribe medicine to lessen your symptoms — like preventing seizures if you have them. And just as importantly, they’ll make sure you know which over-the-counter (OTC) medications to avoid so that your symptoms don’t get worse.

Nutritional management

You may work with a dietitian or another provider to learn how to change your diet (nutrition) to better manage your symptoms. They may also talk to you about taking vitamins or supplements that can help.

Targeted therapies

Depending on your symptoms, your provider might recommend speech therapy or occupational therapy. You may also work with a physical therapist to learn exercises that’ll build your endurance, resistance and strength.

There’s no cure for mitochondrial disease. But with customized, care-driven treatment, we can help you manage your condition in a way that reduces your symptoms, reduces your chances of flare-ups, prevents complications and improves your quality of life.

Taking the Next Step

When you live with mitochondrial disease, you’ll want skilled, compassionate healthcare providers who know how to treat the ins and out of your complicated condition. Cleveland Clinic’s highly trained team is ready to help, and we’re here for you every step of the way. We’ll dig deep to make an accurate diagnosis and create an individualized treatment plan that’ll help you manage your condition for life.