WellSpan Home

Mitochondrial Diseases

Topic Overview

What are mitochondrial diseases?

Mitochondria (say "my-tuh-KAWN-dree-uh") are tiny parts of the cells in your body. Mitochondria are often called the powerhouse of a cell, because one of their jobs is to make energy.

Mitochondrial diseases are a group of rare diseases that can be passed down from mothers to their children. The diseases happen when mitochondria don't work the way they should.

These diseases can appear at any age. And they can affect many different areas of the body.

Examples of these diseases include:

  • Kearnes-Sayre syndrome. Symptoms usually appear before the age of 20 and affect the eyes and ears.
  • Leigh syndrome. It affects a baby's nervous system. It usually begins in the first year of life.
  • MERRF syndrome. MERRF affects the nervous system, muscles, and other areas of the body.
  • MELAS syndrome. MELAS affects many areas of the body, including the brain, nervous system, and muscles.

What are the symptoms?

The symptoms depend on the type of cells that have damaged mitochondria. Symptoms can vary from person to person.

Mitochondrial disease in brain cells can cause symptoms such as:

  • Dementia.
  • Seizures.
  • Strokes.

When the disease is in muscle cells, the symptoms can include:

  • Weakness.
  • Cramps.
  • Problems with movement.

In the cells of the ears or eyes, mitochondrial diseases can cause:

  • Deafness.
  • Blindness.
  • Droopy eyelids.
  • Problems with eye movement.

Other parts of the body that may be affected include the kidneys, nerves, or liver.

How are mitochondrial diseases diagnosed?

If you or your doctor thinks that you have a mitochondrial disease, your doctor will do a physical exam and medical tests. Your doctor will ask questions about you and your health. He or she will also ask about your family's health to find out if anyone else in your family has similar symptoms.

The kind of medical tests you get will depend on your symptoms and on which parts of your body are affected. Tests that may be done include a muscle biopsy and imaging tests like an MRI. Your doctor may also want you to have a genetic test.

Your doctor may suggest that you see a genetic counselor. These counselors are trained to explain the genetic test and its results, but you make the decision about whether to have the test. They also provide education and support to families with members who have birth defects or genetic conditions like mitochondrial diseases. Genetic counseling can help you understand your risk of having a child with mitochondrial disease.

How are they treated?

Treatment usually focuses on relieving your symptoms and helping you feel better. You and your doctor will work together to find the treatment that works best for you. Treatment may include:

  • Getting physical therapy.
  • Eating healthy foods.
  • Getting enough rest.
  • Avoiding people who are sick.
  • Staying at a comfortable temperature.

Your doctor also may recommend taking certain vitamins and supplements.

Surgery or other procedures may be recommended for physical symptoms like drooping eyelids, cataracts, or hearing loss.

Credits

ByHealthwise Staff
Primary Medical ReviewerAdam Husney, MD - Family Medicine
Specialist Medical ReviewerSiobhan M. Dolan, MD, MPH - Reproductive Genetics

Current as ofMay 10, 2017


Are you sure you would like to cancel?

All information will be lost.

Yes No ×

About the provider search

This search will provide you with WellSpan Medical Group and Northern Lancaster County (Ephrata) Medical Group primary care physicians and specialists. If we don’t have a WellSpan Medical Group physician to meet your criteria, the search will expand to include community physicians who partner with WellSpan Medical Group physicians through the WellSpan Provider Network or provide care to patients on the Medical Staffs of WellSpan’s Hospitals.

×

Schedule Your Next Appointment Online with MyWellSpan

Use your MyWellSpan patient portal any time to view available appointments, and pick the date and time that best suits your schedule.

Go to MyWellSpan

New to this practice?

If you don't have a WellSpan primary care provider and would like to schedule a new patient appointment with a provider who is accepting patients, just log into your MyWellSpan account, and go to the Appointment Center section. As you progress through the scheduling process, you will be able to see the offices that are accepting new patients in relation to your zip code. If you are not enrolled in MyWellSpan, go to https://my.wellspan.org, call 1-866-638-1842 or speak with a member of the staff at a participating facility to sign up. New patient scheduling not available at all practices/programs.

Already a patient at this practice?

If you already have a relationship with a WellSpan practice, simply log into your account, and go to the Appointment Center section. As you progress through the scheduling process, you will be able to schedule an appointment with any provider or practice that already counts you as a patient. Online scheduling varies by practice/program.

×