How to Diagnose Mitochondrial Disease

Asia's Tech News Daily

Mitochondrial diseases include a wide range of conditions that weaken a person’s neuromuscular system, such as Alpers disease, Leigh disease, or Luft disease. This is because the energy-producing parts of the patient’s cells, called the mitochondria, are damaged. Recognizing a mitochondrial disease can be difficult because they have varying symptoms that can affect many different organs. Although most mitochondrial diseases show symptoms before the age of 20, they can also present in adulthood.


Part 1 Part 1 of 3:Recognizing Symptoms of a Mitochondrial Disease

How to Diagnose Mitochondrial Disease

Notice muscle weakness. Your muscles may feel tired and weak after minimal activity. You may struggle to pick up items or maintain your balance. Additionally, you may feel tired easily, especially after any kind of physical activity.

  • Muscle cramps are usually not a symptom of mitochondrial disease, but they can sometimes accompany muscle weakness.

How to Diagnose Mitochondrial Disease

Watch for exercise intolerance. You may experience immediate fatigue when trying to exercise. The muscles, including the heart, become too weak for exercise. This means that you likely wouldn’t have the stamina to be active for long.

  • Exercise intolerance can happen even during mild exercise, such as walking or yoga.

How to Diagnose Mitochondrial Disease

Document movement disorders, such as difficulties moving or tremors. Weakened muscles make it hard to move around. This could mean that your legs aren’t strong enough to carry you, or that you have trouble lifting your arms. Some people experience tremors or involuntary movements.

How to Diagnose Mitochondrial Disease

Notice issues with your eyesight, including blindness or droopy eyelids. You may also have difficulty moving your eyes, such as an inability to follow a moving object. If your vision suddenly changes or is in steady decline, talk to your doctor about the possible cause.

  • Ask your optometrist or ophthalmologist to talk with your primary care physician to determine if your vision issues are related to other possible health problems.

How to Diagnose Mitochondrial Disease

Get tested for hearing loss. Although not everyone with a mitochondrial disease will experience hearing loss, it does happen. The type of hearing loss most associated with mitochondrial disease is called neurosensory hearing loss. This means that the cause of your hearing loss is related to your inner ear, including your nerves. Hearing tests are simple, easy, and painless.

  • An audiologist will have to determine the cause of your hearing loss. Ask your doctor for a referral to an audiologist, who can conduct your test. You can also get free hearing tests at many health fairs.
  • If you’re concerned about your child, you may be able to get their hearing tested through their school. Talk to the school nurse to see if the school does hearing tests.

How to Diagnose Mitochondrial Disease

Seek emergency treatment for heart failure or possible arrhythmias. Your heart is a muscle, so mitochondrial diseases can cause your heart to fail or to have an irregular rhythm. Although this sounds very scary, you can get treatment to help your heart. While undergoing treatment for these conditions, talk to your doctor about your symptoms.

  • Symptoms of heart failure include shortness of breath, coughing, sudden fatigue, changes in appetite, rapid or irregular heartbeat, chest pain, and swelling.
  • Symptoms of a heart arrhythmia include shortness of breath, slow or rapid heart beat, fluttering in your chest, chest pain, lightheadedness, sweating, and fainting.
  • If you have other symptoms of a mitochondrial disease, they can determine if one of these conditions is the underlying issue behind all of your symptoms.

How to Diagnose Mitochondrial Disease

Consult your doctor if you’re having seizures or stroke-like episodes. After you get treatment for these conditions, discuss these symptoms with your doctor. They could be related to a mitochondrial disease if you have other symptoms. Seizure symptoms to watch for include:

  • Temporary confusion
  • Staring
  • Uncontrollable jerking of the arms and/or legs
  • Loss of concentration or awareness
  • Cognitive issues
  • Emotional issues

How to Diagnose Mitochondrial Disease

Check for symptoms of dementia. Dementia can include difficulties remembering things, poor judgement, and confusion. This can be difficult to notice in yourself, so talk to your friends and family to see if they’ve noticed symptoms. Symptoms to watch for include:

  • Memory loss
  • Communication issues
  • Problem-solving issues
  • Trouble planning and/or completing tasks
  • Poor coordination
  • Confusion
  • Personality changes
  • Depression
  • Anxiety
  • Paranoia
  • Agitation
  • Hallucinations

How to Diagnose Mitochondrial Disease

Observe poor growth and developmental delays in children. A child who develops a mitochondrial disease early may be underweight or small for their age. They may also fall behind expectations on developmental charts. This can affect either their physical or cognitive development.

How to Diagnose Mitochondrial Disease

Consider if you have diabetes in addition to other symptoms. Mitochondrial diseases can lead to diabetes in some people. While diabetes alone doesn’t mean that you have a mitochondrial disease, it could be a symptom.

  • Symptoms of diabetes include extreme thirst, frequent urination, blurred vision, fatigue, slow healing sores, tingling in your hands and feet, unexplained weight loss, and sore, red gums.

How to Diagnose Mitochondrial Disease

Document episodes of vomiting if you also have other symptoms. Vomiting has many causes. If you have it alongside other symptoms of mitochondrial disease, it’s something you should bring up with your doctor. It may be caused by one of these conditions, especially if it happens often with no obvious cause.

  • Your doctor may be able to prescribe something to relieve your frequent vomiting. For example, they may prescribe ondansetron or lorazepam to relieve nausea.

Part 2 Part 2 of 3:Getting a Medical Diagnosis

How to Diagnose Mitochondrial Disease

Visit your doctor. Your doctor will rule out other possible causes and, if necessary, refer you to a specialist for further testing. Mitochondrial diseases are very hard to diagnose because they share symptoms with other illnesses. Fortunately, there are diagnostic tests that your doctors can use to determine if you have one.

  • Make a list of all of your symptoms and how long you’ve experienced them. Bring this and your medical history to your appointment.
  • If you’re taking any medications or supplements, give your doctor this information, including dosages.

How to Diagnose Mitochondrial Disease

Expect your doctor to eliminate metabolic issues. These conditions can mimic the symptoms of mitochondrial disease, so they need to be eliminated as a potential cause for your symptoms. To eliminate these conditions, the doctor will do a blood test to check your triglycerides, cholesterol, and blood sugar. They’ll also measure your body weight and blood pressure.

  • Common metabolic syndromes include insulin resistance and diabetes.

How to Diagnose Mitochondrial Disease

Undergo genetic testing. Genetic testing can show if you have an issue with your mitochondrial DNA or nuclear DNA, both of which can cause a mitochondrial disease. A specialist can examine the DNA to determine if these conditions are a possibility. Keep in mind that a negative test result does not mean that you don’t have a mitochondrial disease, so more testing could be necessary.

  • Getting the test done is easy on your part. All you need to do is allow the doctor or nurse to draw your blood, which is usually painless.
  • Genetic testing may not be covered by insurance, so discuss this with your insurance provider and doctor before approving the tests.

How to Diagnose Mitochondrial Disease

Get tested for lactic acidosis. About half of patients with a mitochondrial disease will have extra lactate in their bodies. This can cause lactic acidosis. Although not all patients will experience this, it can help the doctor make a diagnosis if you do.

  • The doctor will often test for lactic acidosis by doing a simple urine or blood test, which are painless. They may also test your cerebrospinal fluid if it’s been drawn. This is a simple procedure but can be painful.
  • There are other causes of lactic acidosis, so having it does not necessarily mean you have a mitochondrial disease.

How to Diagnose Mitochondrial Disease

Get an MRI to check your brain and spine. A magnetic resonance imaging (MRI) test allows the doctor to look at your brain and spine to check for abnormalities. They’ll then be able to rule out other conditions or determine if your symptoms could be related to a mitochondrial disease. Usually this test is only conducted alongside other diagnostic tests.

  • While it sounds scary, an MRI is painless and easy. You may experience some discomfort from staying still.

How to Diagnose Mitochondrial Disease

Allow the doctor to take a biopsy. After giving you local anesthesia, your doctor will insert a biopsy needle into your affected muscle to take a small sample. You may feel some pressure but won’t feel pain. A specialist will then examine the mitochondria in the muscle cells. They’ll also measure the enzymes to look for abnormalities.

  • In some cases, your doctor may need to make a small incision to take a larger sample. They will ensure that you are properly numbed first.
  • You may experience some discomfort after the procedure.

Part 3 Part 3 of 3:Treating Mitochondrial Disease

How to Diagnose Mitochondrial Disease

Work with your doctor to develop a treatment plan. There isn’t a specific treatment for mitochondrial disease, but most patients see improvements when following a prescribed treatment plan. This often includes medications to relieve their symptoms, dietary changes, supplements, and avoidance of stress.

  • Always talk to your doctor or dietician before changing your diet or adding supplements.
  • Medications you’re prescribed will depend on the type of mitochondrial disease you have and what symptoms you’re experiencing. For example, someone who has seizures may be given an anti-seizure medication.

How to Diagnose Mitochondrial Disease

Work with a dietician and doctor to adjust your diet. Although dietary changes can help manage your symptoms, different types of mitochondrial diseases react differently under the same dietary plan. For example, some people thrive on high fat diets that help them gain weight, and others get sicker. It’s important that you work with a professional to make these changes.

  • Overall, frequent, small meals are often best for managing symptoms.

How to Diagnose Mitochondrial Disease

Undergo physical therapy to increase your strength and flexibility. Physical therapy can help improve your range of motion and improve your muscle strength. A professional physical therapist can show you how to do the exercises, which you can then do at home as you become stronger.

  • Talk to your doctor to get a referral to a physical therapist.
  • If you can, take a family member or friend with you so that they can learn how to help you with the exercises.

How to Diagnose Mitochondrial Disease

Talk to your doctor about vitamin therapies. Some patients see improvement after taking riboflavin, coenzyme Q, and carnitine. These vitamins may improve your energy levels to help you overcome symptoms of fatigue.

  • Iron and excessive vitamin C around iron-rich meals can aggravate the symptoms of some people with mitochondrial diseases. But don’t try to adjust your intake yourself! Instead, discuss them with your doctor.
  • Always talk to your doctor or healthcare provider before taking any supplements, especially if you’re taking other medications.

How to Diagnose Mitochondrial Disease

Engage in stress reduction activities. Stress can aggravate your symptoms, causing a flare-up. Cope with everyday stress using breathing exercises, music that relaxes you, aromatherapy scents like lavender, or a creative outlet, such as coloring in an adult coloring book. Manage your stressors by saying “no” when you need to and discussing your health needs with your family and/or coworkers.

  • Try a few stress reduction techniques to see what works for you. Depending on your symptoms, some options may not work for you, and that’s okay. For example, don’t feel pressured to try yoga if it causes you extreme fatigue.

How to Diagnose Mitochondrial Disease

Get assistive devices when necessary. Symptoms like vision issues, hearing loss, or heart issues can be managed using assistive devices. For example, you could get a hearing aid or cochlear implant to address hearing loss. Talk to your doctor about what might work for you.

  • You may not need any assistive devices at all, but they can be helpful for some.
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