Journal
NEUROMUSCULAR DISORDERS
Volume 30, Issue 5, Pages 413-419Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2020.02.017
Keywords
Mitochondrial disorders; Pain; Neuropathy; Mitochondria; Genetics
Categories
Funding
- EMBO Long-term Fellowship [ALTF 1600_2014]
- Wellcome Trust Postdoctoral Training Fellowship for Clinicians [105839]
- Medical Research Council Clinician Scientist Fellowship [MR/S002065/1]
- Medical Research Council Mitochondrial Biology Unit [MC_UU_00015/9]
- Medical Research Council (MRC) International Centre for Genomic Medicine in Neuromuscular Disease
- Evelyn Trust
- National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust
- UK NHS Highly Specialised Commissioners
- University of Cambridge
- MRC [MR/S002065/1, MC_UU_00015/9] Funding Source: UKRI
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In the absence of cure, the main objectives in the management of patients with mitochondrial disease are symptom control and prevention of complications. While pain is a complicating symptom in many chronic diseases and is known to have a clear impact on quality of life, its prevalence and severity in people with mitochondrial disease is unknown. We conducted a survey of pain symptoms in patients with genetically confirmed mitochondrial disease from two UK mitochondrial disease specialist centres. The majority (66.7%) of patients had chronic pain which was primarily of neuropathic nature. Presence of pain did not significantly impact overall quality of life. The m.3243A > G MTTL1 mutation was associated with higher pain severity and increased the likelihood of neuropathic pain compared to other causative nuclear and mitochondrial gene mutations. Although previously not considered a core symptom in people with mitochondrial disease, pain is a common clinical manifestation, frequently of neuropathic nature, and influenced by genotype. Therefore, pain-related symptoms should be carefully characterised and actively managed in this patient population. (C) 2020 The Author(s). Published by Elsevier B.V.
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