Mitochondrial myopathies are a group of conditions that particularly affect muscles, but which may also affect every other part of the body, including the brain and the eye.
Mitochondrial myopathy is caused by genetic faults which affect the function of mitochondria. These are the ”energy factories” that are present in every cell.
About 3,500 people in the UK have mitochondrial myopathy. The impact of mitochondrial myopathy varies dramatically from person to person. Many of those diagnosed are unaware that there is a family history of the condition.
The most common symptom is a combination of mild weakness of the arms and legs, droopy eyelids and difficulty moving the eyes. Some people only have the weakness in their arms and legs and find this gets worse if they exercise. In others it is more severe. For example, some babies with the condition may have difficulties with swallowing and feeding, which can affect their life-expectancy.
There is currently no treatment available, although Muscular Dystrophy UK is funding research to examine the underlying causes of mitochondrial myopathy. However, physiotherapy can help to ease symptoms.
We also funded research for over a decade which led to the development of a pioneering new IVF technique. Known as mitochondrial transfer IVF, this technique could allow women affected by mitochondrial disease to have unaffected children. We have been supporting a campaign for changes in UK genetic research regulations to allow this technique to be progressed further. In early February 2015, MPs voted in favour of a regulatory change.
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Jamie Pammenter had Duchenne muscular dystrophy and died in 2018