Queen Square Centre for Neuromuscular Diseases


Diagnosis and treatment 

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Muscle exercise testing

A diagnosis of Mitochondrial Disease is made following a number of investigations.

These investigations include assessment and evaluation in clinic, as well as analysis of blood, urine and/or muscle (following a muscle biopsy).

There is currently no cure for patients with mitochondrial disease. Symptom management is therefore vital to maintaining quality of life. 

Early recognition of complications allows proactive intervention to reduce morbidity and mortality. 

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There are three laboratories linked to the Nationally commissioned Mitochondrial Disease Service in London. 

They provide:

  • Muscle histopathology 
  • Molecular genetic diagnostics 
  • Respiratory chain biochemistry

Blood, DNA, skeletal muscle or other tissue samples may be referred to the service for appropriate diagnostic evaluations. 


There is an annual patient information day for people who have a confirmed diagnosis of Mitochondrial Disease. This day is for both patients and their relatives/carers, and is an opportunity to share information and research about Mitochondrial disease and its management. 

Sessions from patient days are filmed and transcribed.  

A range of information sheets for people with Mitochondrial Disease are in development and will be available shortly.