Utilidad de la prueba de ejercicio cardiopulmonar en pacientes con miopatía mitocondrial

Fernández, J; Montemayor, Teodoro; Bautista, Javier; Márquez, Ramón Gómez; Jiménez, L.; Arenas, J. M. Bajo; Campos, Yolanda; Castillo, J. Ruiz del

doi:10.1016/s0025-7753(00)71216-4

Cited by 9 publications

(6 citation statements)

References 21 publications

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“…A sedentary lifestyle was common among our patients and probably contributed to their progressively worsening exercise tolerance. Their baseline maximal aerobic capacity was reduced and anaerobic threshold onset was at low levels of exertion in accordance with our previous findings 12. Mean values for peak VO 2 were similar to those reported by others 8, 13, 33.…”

Section: Discussionsupporting

confidence: 92%

“…Mean values for peak VO 2 were similar to those reported by others 8, 13, 33. Patients showed evidence of normal pulmonary function as noted previously by us12 and others,7, 8 except for values of MIP, which were mildly decreased. Recent reports describe such impaired inspiratory–expiratory function,7, 13 demonstrating an important role for ventilatory limitation of exercise in MM 13…”

Section: Discussionsupporting

confidence: 89%

“…In accord with other reports,8, 23 we have demonstrated that these patients show a limited exercise performance, with reduced maximal oxygen uptake (VO 2 max) and early lactate threshold (LT) onset as expression of abnormal precocious activation of anaerobic metabolism 12. However, these findings are not specific to mitochondrial diseases and have led authors to postulate that exercise intolerance in patients with mitochondrial myopathy arises from chronic deconditioning in addition to impaired muscle oxidative capacity 8, 32.…”

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confidence: 87%

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Exercise training in mitochondrial myopathy: A randomized controlled trial

et al. 2005

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Patients with mitochondrial myopathies (MM) usually suffer from exercise intolerance due to their impaired oxidative capacity and physical deconditioning. We evaluated the effects of a 12-week supervised randomized rehabilitation program involving endurance training in patients with MM. Twenty MM patients were assigned to a training or control group. For three nonconsecutive days each week, patients combined cycle exercise at 70% of their peak work rate with three upper-body weight-lifting exercises performed at 50% of maximum capacity. Training increased maximal oxygen uptake (28.5%), work output (15.5%), and minute ventilation (40%), endurance performance (62%), walking distance in shuttle walking test (+95 m), and peripheral muscle strength (32%-62%), and improved Nottingham Health Profile scores (21.47%) and clinical symptoms. Control MM patients did not change from baseline. Results show that our exercise program is an adequate training strategy for patients with mitochondrial myopathy.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 89%

supporting

confidence: 87%

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Exercise training in mitochondrial myopathy: A randomized controlled trial

et al. 2005

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“…As in other mitochondrial myopathies [19], in our series the cardiopulmonary exercise testing identified a very reduced consumption of oxygen, even in patients with CPEO as a predominant clinical manifestation (P8). This indicates that, although the weakness may not be severe in late-onset TK2 deficiency patients, the exercise capacity is abnormally low, ultimately impairing physical activity.…”

Section: Discussionsupporting

confidence: 73%

“…In addition to weakness, one of the most frequent clinical manifestations in the mitochondrial myopathies is poor exercise capacity [18]. The latter is reflected by low levels of VO 2 peak or by poor muscle-oxygen extraction (as assessed with near-infrared spectroscopy) during graded cycle-ergometer/treadmill testing [19]. Aerobic exercise testing was performed on a cycle ergometer in five patients.…”

Section: Resultsmentioning

confidence: 99%

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Domínguez‐González

Hernández-Laín

Rivas

et al. 2019

Orphanet J Rare Dis

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Background TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. Methods We describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with absence of clinical symptoms until the age of 12. Results The mean age of onset was 31 years. The first symptom was muscle limb weakness in 10/18, eyelid ptosis in 6/18, and respiratory insufficiency in 2/18. All patients developed variable muscle weakness during the evolution of the disease. Half of patients presented difficulty in swallowing. All patients showed evidence of respiratory muscle weakness, with need for non-invasive Mechanical Ventilation in 12/18. Four patients had deceased, all of them due to respiratory insufficiency. We identified common radiological features in muscle magnetic resonance, where the most severely affected muscles were the gluteus maximus, semitendinosus and sartorius. On muscle biopsies typical signs of mitochondrial dysfunction were associated with dystrophic changes. All mutations identified were previously reported, being the most frequent the in-frame deletion p.Lys202del. All cases showed multiple mtDNA deletions but mtDNA depletion was present only in two patients. Conclusions The late-onset is the less frequent form of presentation of the TK2 deficiency and its natural history is not well known. Patients with late onset TK2 deficiency have a consistent and recognizable clinical phenotype and a poor prognosis, due to the high risk of early and progressive respiratory insufficiency.

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A novel exercise testing algorithm to diagnose mitochondrial myopathy

2021

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Introduction Oxygen uptake efficiency slope (OUES) is a noninvasive cardiopulmonary exercise testing (CPET) measurement based on oxygen uptake (V˙O2) and minute ventilation (V˙E) and is a marker of the efficiency of oxygen utilization by the body. However, it has not been studied in mitochondrial disorders. We explored noninvasive CPET parameters, including OUES, as a way to reliably diagnose mitochondrial myopathy. Methods We performed cycle ergometer maximal exercise testing on definite and suspected mitochondrial myopathy subjects (MM‐D and MM‐S) and their age‐ and sex‐matched controls. OUES was corrected for body surface area (OUES/BSA) to eliminate the effect of body size. Results A total of 40 participants, including 20 MM‐D (n = 13; 6 males; aged 14‐64 years) and 7 MM‐S (5 males, aged 11‐30 years) subjects and 20 controls, completed the study. MM‐D subjects showed lower aerobic fitness than controls. OUES/BSA was lower in MM‐D subjects, suggesting inefficient oxygen utilization. Area under the curve (AUC) and 95% confidence interval (CI) for OUES/BSA (AUC, 0.91; 95% CI, 0.80‐1.00), peak V˙O2 percent predicted (AUC, 0.95; 95% CI, 0.86‐1.00), and V˙O2/work slope (AUC, 0.94; 95% CI, 0.85‐1.00) showed excellent ability to diagnose mitochondrial myopathy in MM‐D subjects. We applied a diagnostic approach based on the parameters just noted to MM‐S subjects and their controls and were able to support or disprove the diagnosis of mitochondrial myopathy. Discussion We proposed and applied an approach based on the aformentioned three CPET parameters to diagnose mitochondrial myopathy reliably and found it to be clinically useful.

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Utilidad de la prueba de ejercicio cardiopulmonar en pacientes con miopatía mitocondrial

Cited by 9 publications

References 21 publications

Exercise training in mitochondrial myopathy: A randomized controlled trial

Exercise training in mitochondrial myopathy: A randomized controlled trial

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

A novel exercise testing algorithm to diagnose mitochondrial myopathy

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