The guidance was produced by specialists from the NHS Rare Mitochondrial Disorders Service in Newcastle and London, with input from the service's clinic in Oxford and patient groups. Drawing on years of research, it recommends that physiotherapy should be available to all people diagnosed with a mitochondrial disorder.
The Lily Foundation was asked to review the document to ensure it is accessible and relevant to people with mitochondrial disease and their carers, as well as healthcare professionals. Families affected by mitochondrial disease, who are supported by The Lily Foundation, were given the opportunity to provide feedback prior to its publication.
The final 20-page document is now available to download on websites of the NHS Rare Mitochondrial Disorders Service and the Wellcome Centre for Mitochondrial Research. Intended as a general reference guide rather than a prescriptive standard of practice, it covers the common reasons why people with mitochondrial disease are referred into physiotherapy, including movement and mobility issues, pain, fatigue, problems with balance, respiratory issues and intolerance to exercise.
One of the specialists who worked on the project is Jane Newman, a research physiotherapist with the NHS Rare Mitochondrial Disorders Service in Newcastle.
"The aim was to provide guidance to support non-specialist physiotherapists who might be working with mito patients for the first time. Mitochondrial disease is a rare condition, so it's not unusual for patients to be referred to a local physiotherapist who has no knowledge about their disorder. This guidance covers the main symptoms that mito patients are referred to physiotherapy for, and advises on how those symptoms might affect how physiotherapy is performed."
The document also includes general guidance about exercise, which can be a problem area for physiotherapists not used to working with people with mitochondrial disease.
"There's a tendency for physiotherapists to feel they can't ask patients with mitochondrial disorders to exercise, for fear that the patient will be unable to tolerate it. But research has shown that exercise is safe, and in many cases will be beneficial to the patient. So really it's no different to treating other patients with similar symptoms caused by neurological disorders."
Jane said it was important to emphasise that the guidance is not intended as a fixed set of rules on how physiotherapists should treat people with mitochondrial disorders:
"The scope of mitochondrial disease is so huge, and every patient is an individual, so it would be wrong to tell physios what they should do treatment-wise. As a physiotherapist you are trained to assess patients, find out their main problems and what they would like to achieve from treatment, and then work together to achieve those goals. We wanted to reassure physiotherapists that this still applies in the majority of cases with mito patients, while also flagging up those cases where a little extra care might be needed."
The guidance is the latest addition to a series of general guidelines the NHS Rare Mitochondrial Disorders Service in Newcastle provides for healthcare professionals treating people with mitochondrial disorders. The guidelines cover areas such as pregnancy, epilepsy, diabetes, cardiology and stroke-like episodes, and are available for download here.