Mitochondrial disease

Overview

Mitochondria make energy in cells, so organs that use the most energy are most affected.

Symptoms can include muscle weakness, seizures, hearing loss, and diabetes.

Symptoms

Common signs:

• Weakness, tiredness

Less common

• Seizures
• Vision problems
• Hearing loss

Look up a symptom: Child not talking or meeting milestones · Fatigue · Muscle weakness in arms or legs

When to get medical care

Causes

Genes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.

Who is more likely to get it

• Children of a mother with it: Some types pass from the mother

Possible complications

• Hearing loss: Common in some types
• Diabetes: Common in some types

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Gene tests:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Avoid fasting

Prevention

To lower your risk or prevent problems:

• Genetic counseling

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a medical geneticist (genetics doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Families: Genetic counseling helps.
• Children: Many types start then.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Care focuses on symptoms.

Treatment manages symptoms.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• Which specialists do I need?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Mitochondrial disease