Looking at a family tree and the clinical symptoms can help determine which type of mitochondrial disease you may have. For some patients, if their clinical symptoms match a readily recognised condition, such as MELAS or MERRF, the genetic mutation causing mitochondrial disease can sometimes be identified in a blood or urine sample.
Sometimes a muscle biopsy is required for diagnosis. This involves a doctor or nurse removing a small piece of your muscle for further laboratory tests. (You can read more about this in our Muscle biopsies factsheet.)
Under the microscope, mitochondria from people with mitochondrial myopathies often look different from those of a healthy person. They may accumulate around the edges of muscle cells, altering the shape of the muscle cells and giving the so-called ‘ragged’ appearance. It is also possible for clinicians and scientists to measure how well a patient’s mitochondria are working and identify where the defect is. In many cases, it is possible to establish the diagnosis by looking for the genetic mutation in either the mitochondrial DNA or nuclear DNA.
Is the condition life-threatening and will it affect my life span?
There are great variations in mitochondrial myopathy, so it is important to ask your doctor about this.
In many adults affected by mitochondrial disease, the condition progresses slowly. It can sometimes lead to difficulty with everyday activities in later life. Life span may be no different from that of the general population. Specialist input can substantially improve the impact of severe brain involvement, heart problems, major gut problems and breathing difficulties, which would otherwise shorten life span.
Some forms of mitochondrial disease, such as Leigh disease, begin very early in life and can often be life-limiting.
Survival has substantially improved in recent years, which is likely to be a result of better information and targeted supportive care. Most specialist centres issue patients with personalised log books, emergency information sheets or contact details for their specialists. It is strongly recommended that you carry these with you at all times.
Can I avoid passing a faulty gene on to my child?
This is a complex question and the advice will vary depending on both the individual and the type of mitochondrial disease. It is essential to seek advice from a geneticist, a doctor working in one of the specialist centres, or a genetic counsellor that explains your particular diagnosis and whether and how it runs in families. They can explain the range of options available to you, can take you through the pros and cons, refer you to the appropriate centre and give you a route whereby they can answer any further questions.
In cases where the disease is inherited from the mother, the use of eggs (oocytes) from an unaffected donor removes the risk of passing on mitochondrial disease. The donor should not be a maternal relative (such as a sister).
Prenatal diagnosis for mutations causing mitochondrial disease is currently available in the UK. This can reliably diagnose unborn children with mitochondrial diseases inherited from both parents, and can be used for some but not all maternally-inherited mitochondrial DNA diseases.
Pre-implantation genetic diagnosis (PGD) is also available in the UK. This is widely used for preventing many different genetic conditions being passed on, and as a result, thousands of healthy babies have been born. It is an IVF treatment that allows selection of embryos at no or low risk of developing mitochondrial disease. This can reliably diagnose embryos with mitochondrial diseases inherited from both parents, and works well for many, but not all maternally-inherited mitochondrial DNA diseases. You can read more about prenatal diagnosis and PGD in our Genetic counselling and family planning factsheets.
Mitochondrial donation is a groundbreaking IVF treatment (developed with research funds from MDUK) that reduces the risk of a mother passing on a mitochondrial DNA mutation to her future children. Research studies suggest that mitochondrial donation is both safe and effective in preventing mitochondrial disease, although the long-term effect has not yet been observed. The first baby resulting from using this technique was born in 2016. At seven months the baby was observed to be healthy, and remains under long-term management by healthcare professionals.
This technique is now available in the UK, but it is still early days and as of 2017 no babies have been born in the UK with this method. The technique is currently only suitable for women who are likely to pass severe mitochondrial DNA disease onto their children. Speak to your geneticist, neurologist or GP to discuss your options.
What if I am already pregnant when I am diagnosed?
If you are pregnant, it is important to let your specialist team know this as soon as possible. You may be offered prenatal diagnosis after 11 weeks of pregnancy, if this is available for your condition. Your specialist team can support you through the pregnancy by ensuring your local obstetric team are aware of any potential risks of complications for you or for the baby on delivery.
What should I do during my pregnancy?
It is important to attend antenatal care, maintain a well-balanced diet and avoid extreme weight gain. Depending on the type of mitochondrial disease you have, specialist advice from a dietician may be beneficial. Avoid fasting and excessive exertion. The level of physical activity you take will depend on how severely your muscles are affected. For those able to exercise, it will improve wellbeing and in some cases, lead to improved heart and muscle function.
Your local care advisor can give you practical support and information. They also help families liaise between the various professionals, such as physiotherapists, occupational therapists, social workers and teachers.