The average life expectancy for people with mitochondrial disease is between 18 and 35 years.
Mitochondrial disease is a progressive condition, meaning that symptoms will get worse over time.
Mitochondrial diseases can also cause significant disability, which can shorten life expectancy. However, the long-term outlook for mitochondrial disease varies widely from person to person.
Some people with mitochondrial disease may be able to live independently for many years. Others may need help with day-to-day tasks.
If you’re concerned about the possibility of shortening your life expectancy, talk to your doctor. They can offer guidance and support.
Risks of mitochondrial disease
Mitochondrial disorders are highly preventable. But there are some risks to consider if you have mitochondrial disease:
- Heart disease. Mitochondrial diseases can increase your risk for heart disease.
- Stroke. Mitochondrial disorders are associated with a higher risk of stroke.
- Brain disorders. Mitochondrial diseases can cause a variety of brain disorders, including seizures, sleep disturbances, and dementia.
- Mobility issues. People with mitochondrial diseases may have trouble walking, talking, or standing.
- Skin conditions. Some people with mitochondrial disease have skin problems, which include skin rashes.
- Infertility. In some cases, men and women with mitochondrial diseases can experience infertility.
- Seizures. Some people with mitochondrial diseases have epilepsy.
Mitochondrial diseases can also have a negative impact on the quality of life.
Signs of mitochondrial disease
Mitochondrial diseases cause damage to the body’s energy supply.
The symptoms and severity of mitochondrial diseases vary from person to person. Symptoms are often first noticed in young children.
When the damage to energy production is mild, a person may not have any symptoms. When mitochondrial diseases are more severe, symptoms may include:
- Shortness of breath
- Chest pain
- Heart palpitations
- Muscle weakness
- Frequent infections
- Difficulty eating
- Poor growth
- Developmental delays
- Developmental disabilities
- Vision problems
- Cognitive decline
Symptoms of mitochondrial disease may be different from person to person. Some people with mitochondrial disease may not have any symptoms at all.
How is mitochondrial disease diagnosed?
To diagnose a mitochondrial disease, your doctor will perform a physical exam and a series of tests.
They may use a blood or urine sample to check for signs of mitochondrial disease. A blood test can also reveal abnormal levels of certain amino acids.
They may also order a CT scan or MRI scan. These imaging tests can help them see the extent of muscle damage and how much energy the body is using.
Your doctor may also order a muscle biopsy. This involves taking a tissue sample from the part of your body where the muscle is located. A pathologist will check the tissue for signs of mitochondrial disease.
Treatment for mitochondrial disease
There’s no cure for mitochondrial diseases, but many people live full lives with the help of a multidisciplinary team of healthcare professionals.
Your doctors will work with you to develop an individualized treatment plan. This will include:
Treatment for mitochondrial disease is based on the severity of your symptoms and the presence of complications.
The best approach for treating mitochondrial disease will depend on the person and their individual needs.
People with mild mitochondrial disease can live independently with the help of a multidisciplinary team.
Treatment options for more severe mitochondrial disease may include:
- Breathing support
- Feeding tubes
- A wheelchair
- A wheelchair at home
Some people with mitochondrial disease may need total care at home, such as with breathing support, feeding, and mobility support.
Outcomes of mitochondrial disease
There’s no cure for mitochondrial disease, so you can’t just “get over it.”
The condition often gets worse over time. It may become more difficult to breathe, and you may need feeding tubes and a wheelchair.
You can’t be cured of mitochondrial disease, but you can live a full life. Your outlook will depend on the severity of the disease and the support you get from your doctors.
Mitochondria are energy-producing organelles that are located in the cell’s cytoplasm.
Mitochondrial diseases affect the energy supply of cells. They affect how cells use oxygen and produce ATP. This is the body’s energy currency.
Mitochondrial diseases are passed down through families and result in abnormal mitochondria. These organelles can also be damaged or defective due to environmental factors or a defect in DNA.
Mitochondrial diseases can be inherited or acquired. They can be classified into three groups:
- Mitochondrial cytopathies. These are caused by genetic defects, such as deletions or mutations in mitochondrial DNA.
- Mitochondrial encephalomyopathies. These are caused by mutations in the nuclear DNA.
- Mitochondrial myopathies. These are caused by mutations in the mitochondrial DNA.
Several types of mitochondrial diseases include:
- Leber hereditary optic neuropathy (LHON). This is the most common inherited mitochondrial disease. About 3 out of every 10,000 people in the United States have LHON.
- Leukoencephalopathy with or without strokelike episodes (LSC). This may cause vision loss or seizures.
- Maternally inherited mitochondrial disease, or Leber hereditary optic neuropathy (LHON). This is the most common acquired mitochondrial disease.
- Maternally inherited hearing loss. This may cause hearing loss, tinnitus, or vertigo.
- Maternally inherited neuromuscular disorders. These are more common in women and can affect motor neurons.
- Mitochondrial encephalomyopathies. These may cause problems with movement, vision, or hearing.
- Mitochondrial myopathies. These may cause myopathy, myoclonus, or strokelike episodes.
Mitochondrial diseases may cause complications, such as stroke. They may also result in death. The risk of death is highest in people with severe mitochondrial disease.
Treating mitochondrial diseases
There’s no cure for mitochondrial disease, but many people live full lives with the help of a multidisciplinary team.
The bottom line
Mitochondrial diseases are a group of genetic disorders that affect how your cells use energy.
They can affect your muscles, skin, and organs, causing problems with movement, heart function, and the ability to think clearly.
These disorders cause symptoms such as muscle weakness, heart disease, and abnormal eye movements.
Mitochondrial diseases are rare, with an estimated 1 in 50,000 people having this disorder in the United States.
Life expectancy varies widely, but it’s a long life for most people.
If you have mitochondrial disease, talk to your doctor about what your life expectancy will be.
A doctor can help you develop a treatment plan that will help you manage your symptoms and live healthy lives.
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