15612 Mitochondrial Diseases

Overview

Mitochondrial diseases are a group of long-term conditions caused by problems with the mitochondria, the tiny parts of your cells that produce energy. When mitochondria do not work properly, your body's organs and tissues may not get the energy they need to function.

Mitochondrial diseases are rare. It is estimated that about 1 in 5,000 people has a mitochondrial disease, but exact numbers are uncertain because symptoms can be mild and go unrecognised.

Mitochondrial diseases can affect people of all ages, including children and adults. Some types appear in infancy or early childhood, while others first develop later in life. Both males and females can be affected.

Symptoms

Common symptoms

• Feeling very tired (fatigue) even after light activity
• Muscle weakness, pain, or cramps
• Difficulty breathing or swallowing
• Poor growth, weight loss, or trouble gaining weight
• Problems with vision or hearing

Symptoms in children

• Developmental delays, such as walking or talking later than expected
• Feeding difficulties and poor weight gain
• Seizures
• Weak muscle tone, sometimes called 'floppy baby'

Symptoms in older adults

• Gradual muscle weakness and fatigue
• Problems with balance and coordination
• Hearing loss or vision loss
• Diabetes, thyroid problems, or heart rhythm issues

Causes

Main causes

• Changes (mutations) in genes that control how mitochondria work. These gene changes can be inherited from a parent or can happen for no known reason.
• Some mitochondrial diseases are caused by changes in the DNA inside the mitochondria itself, which is passed down from the mother.

Risk factors

• Having a family member with a mitochondrial disease
• Being born to a mother who carries a mitochondrial gene change (for certain types)
• New gene changes that occur in the egg or sperm at conception

When to see a doctor

See a doctor urgently if:

• If you or your child have breathing problems, chest pain, seizures, or sudden loss of vision or hearing, get urgent medical help.

Book a routine appointment if:

• If you have constant fatigue, muscle weakness, or other symptoms that worry you, make an appointment with your doctor.
• If your child is not meeting developmental milestones or is losing skills, speak to your GP or health visitor.

Diagnosis

A doctor will take a detailed medical history and do a physical exam. Because mitochondrial diseases affect many parts of the body, you may be referred to a specialist, such as a neurologist or a metabolic doctor.

Tests that may be done

• Blood tests to check for markers of mitochondrial problems
• Genetic testing to look for known gene changes
• Muscle biopsy (taking a small sample of muscle to examine under a microscope)
• MRI scans of the brain
• Heart tests, such as an echocardiogram

What to expect at your appointment

The diagnostic process can take time. You may need several appointments and tests. Be ready to describe your symptoms in detail, including when they started and how they affect your daily life.

Treatment

There is no cure for mitochondrial diseases, but treatment focuses on managing symptoms, supporting affected organs, and improving quality of life. Your care team will tailor a plan to your specific needs.

Self-care at home

• Pace yourself and plan rest breaks during the day
• Eat small, frequent meals if you feel sick or have trouble eating
• Avoid things that make symptoms worse, such as extreme heat or going without food for long periods
• Stay in touch with your care team and report any new symptoms

Medical treatments

Treatment may include vitamin supplements and cofactors to help mitochondria work better, medicines to control seizures, heart problems, or diabetes, and physical or occupational therapy to build strength and manage daily tasks.

When is surgery considered?

Surgery is rarely needed for mitochondrial disease itself. However, some people may need surgery for related problems, such as heart valve issues. Your specialist will discuss options if this applies to you.

Living with this condition

Living with a mitochondrial disease may mean adapting your routine. You might need to plan rest periods, use mobility aids if muscles are weak, and arrange your home for safety and comfort.

Lifestyle tips

• Keep a routine that balances activity with rest
• Avoid alcohol, smoking, and recreational drugs
• Keep your vaccinations up to date to reduce the risk of infections
• Stay warm, but avoid overheating

Diet and exercise

A healthy, balanced diet is important. Some people benefit from supplements, but only take these if prescribed by your doctor. Gentle exercise, like walking or swimming, can help maintain strength, but always check with your care team first.

Mental health and emotional wellbeing

Living with a long-term condition can feel stressful, anxious, or sad at times. It is completely normal to have ups and downs. Talk to your GP or care team about how you are feeling — they can connect you with counselling or support.

Prevention

Because mitochondrial diseases are mostly genetic, you cannot usually prevent them. If you are planning a family and there is a history of mitochondrial disease, you can ask for genetic counselling to understand your options.

Vaccines

Keeping up to date with recommended vaccines can help protect you from infections that might make symptoms worse. Follow the vaccination schedule given by your doctor.

Screening programmes

Newborn screening tests vary by country, but they do not usually include mitochondrial diseases. If you have a family history, you may be offered prenatal genetic testing.

Complications

If left untreated

• Progressive muscle weakness that makes walking or everyday tasks harder
• Organ damage, such as heart, kidney, or liver problems
• Feeding and swallowing problems that can lead to weight loss and chest infections

Long-term outlook

With careful management, many people with mitochondrial disease live fulfilling lives. This is a complex condition, but there are many ways to control symptoms, and research is ongoing. Early support and a strong care plan make a real difference.

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