Clinical practice guidelines for glycogen storage disease V &amp; VII (McArdle disease and Tarui disease) from an international study group

Lucía, Alejandro; Martinuzzi, Andrea; Nogales‐Gadea, Gisela; Quinlivan, Ros; Reason, Stacey L.

doi:10.1016/j.nmd.2021.10.006

Cited by 30 publications

(68 citation statements)

References 85 publications

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“…The presence of McArdle disease was confirmed by genetic diagnosis in one of the three 'reference' centres for genetic analysis (Hospital 12 de Octubre,Madrid;Hospital Val d'Hebron,Barcelona;or Hospital Meixoeiro,Vigo). This implied identification of a documented pathogenic mutation causing McArdle disease in both PYGM alleles (either the same mutation in homozygosis or two different mutations in heterozygosis), as per international recommendations (Lucia et al 2021). Mutant PYGM alleles were identified in muscle or blood samples using SNaPShot minisequencing (Thermo Fisher, Waltham, MA, USA) (Rubio et al, 2007), followed by Sanger sequencing of the entire coding region and intron/exon boundaries (Kubisch et al, 1998).…”

Section: Study In Patientsmentioning

confidence: 99%

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

Santalla

Real-Martinez

Villarreal-Salazar

et al. 2022

The Journal of Physiology

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Carbohydrate availability affects fat metabolism during exercise; however, the effects of complete muscle glycogen unavailability on maximal fat oxidation (MFO) rate remain unknown. Our purpose was to examine the MFO rate in patients with McArdle disease, comprising an inherited condition caused by complete blockade of muscle glycogen metabolism, compared to healthy controls. Nine patients (three women, aged 36 ± 12 years) and 12 healthy controls (four women, aged 40 ± 13 years) were studied. Several molecular markers of lipid transport/metabolism were also determined in skeletal muscle (gastrocnemius) and white adipose tissue of McArdle (Pygm p.50R*/p.50R*) and wild‐type male mice. Peak oxygen uptake (trueV̇normalO2peak${\dot V_{{{\rm{O}}_{\rm{2}}}{\rm{peak}}}}$), MFO rate, the exercise intensity eliciting MFO rate (FATmax) and the MFO rate‐associated workload were determined by indirect calorimetry during an incremental cycle‐ergometer test. Despite having a much lower trueV̇normalO2peak${\dot V_{{{\rm{O}}_{\rm{2}}}{\rm{peak}}}}$ (24.7 ± 4 vs. 42.5 ± 11.4 mL kg−1 min−1, respectively; P < 0.0001), patients showed considerably higher values for the MFO rate (0.53 ± 0.12 vs. 0.33 ± 0.10 g min−1, P = 0.001), and for the FATmax (94.4 ± 7.2 vs. 41.3 ± 9.1 % of trueV̇normalO2peak${\dot V_{{{\rm{O}}_{\rm{2}}}{\rm{peak}}}}$, P < 0.0001) and MFO rate‐associated workload (1.33 ± 0.35 vs. 0.81 ± 0.54 W kg−1, P = 0.020) than controls. No between‐group differences were found overall in molecular markers of lipid transport/metabolism in mice. In summary, patients with McArdle disease show an exceptionally high MFO rate, which they attained at near‐maximal exercise capacity. Pending more mechanistic explanations, these findings support the influence of glycogen availability on MFO rate and suggest that these patients develop a unique fat oxidation capacity, possibly as an adaptation to compensate for the inherited blockade in glycogen metabolism, and point to MFO rate as a potential limiting factor of exercise tolerance in this disease. Key points Physically active McArdle patients show an exceptional fat oxidation capacity. Maximal fat oxidation rate occurs near‐maximal exercise capacity in these patients. McArdle patients’ exercise tolerance might rely on maximal fat oxidation rate capacity. Hyperpnoea might cloud substrate oxidation measurements in some patients. An animal model revealed overall no higher molecular markers of lipid transport/metabolism.

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Section: Study In Patientsmentioning

confidence: 99%

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

Santalla

Real-Martinez

Villarreal-Salazar

et al. 2022

The Journal of Physiology

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“…Stretching the affected muscle during a contracture does not provide relief, and contractures generally last longer than muscle cramps. Painful contractures are prominent in metabolic myopathies 4. Patients with McArdle disease—an autosomal recessive glycogen storage disease caused by a deficiency of myophosphorylase—report painful muscle contractures during normal physical activities of daily life, such as carrying a bag of groceries or walking up stairs.…”

Section: Is It a Muscle Cramp Contracture Or A Muscle Cramp Mimic?mentioning

confidence: 99%

“…Patients with McArdle disease—an autosomal recessive glycogen storage disease caused by a deficiency of myophosphorylase—report painful muscle contractures during normal physical activities of daily life, such as carrying a bag of groceries or walking up stairs. Patients with McArdle disease may also experience the ‘second wind’ phenomenon, progressive muscle weakness, fatigue and myalgia 4. Painless contractures occur in Brody disease, a rare autosomal recessive myopathy with reduced sarcoplasmic/endoplasmic reticulum calcium-ATPase1 activity delaying muscle relaxation 5 Box 2.…”

Section: Is It a Muscle Cramp Contracture Or A Muscle Cramp Mimic?mentioning

confidence: 99%

“…In cases of symptomatic muscle cramps, treatment is directed towards the underlying cause(s). For muscle contractures, patients are often much helped with a detailed explanation of the underlying mechanism and physical therapy to increase physical fitness and to improve understanding of the daily activities that my provoke contractures 4…”

Section: How To Treat and What To Advise Patients With Muscle Cramps ...mentioning

confidence: 99%

“…Unlike stretching of muscle cramps, stretching of a muscle in contracture may cause further muscle damage, and should be avoided. In McArdle disease, oral sucrose supplementation improves exercise capacity, and a carbohydrate-rich diet can relieve symptoms more than a protein-rich diet 4…”

Section: How To Treat and What To Advise Patients With Muscle Cramps ...mentioning

confidence: 99%

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Muscle cramps and contractures: causes and treatment

et al. 2022

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Muscle cramps are painful, sudden, involuntary muscle contractions that are generally self-limiting. They are often part of the spectrum of normal human physiology and can be associated with a wide range of acquired and inherited causes. Cramps are only infrequently due to progressive systemic or neuromuscular diseases. Contractures can mimic cramps and are defined as shortenings of the muscle resulting in an inability of the muscle to relax normally, and are generally myogenic. General practitioners and neurologists frequently encounter patients with muscle cramps but more rarely those with contractures. The main questions for clinicians are: (1) Is this a muscle cramp, a contracture or a mimic? (2) Are the cramps exercise induced, idiopathic or symptomatic? (3) What is/are the presumed cause(s) of symptomatic muscle cramps or contractures? (4) What should be the diagnostic approach? and (5) How should we advise and treat patients with muscle cramps or contractures? We consider these questions and present a practical approach to muscle cramps and contractures, including their causes, pathophysiology and treatment options.

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Exercise testing and prescription in patients with inborn errors of muscle energy metabolism

Batten

Bhattacharya

Simar

et al. 2023

J of Inher Metab Disea

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Skeletal muscle is a dynamic organ requiring tight regulation of energy metabolism in order to provide bursts of energy for effective function. Several inborn errors of muscle energy metabolism (IEMEM) affect skeletal muscle function and therefore the ability to initiate and sustain physical activity. Exercise testing can be valuable in supporting diagnosis, however its use remains limited due to the inconsistency in data to inform its application in IEMEM populations. While exercise testing is often used in adults with IEMEM, its use in children is far more limited. Once a physiological limitation has been identified and the aetiology defined, habitual exercise can assist with improving functional capacity, with reports supporting favourable adaptations in adult patients with IEMEM. Despite the potential benefits of structured exercise programs, data in paediatric populations remain limited. This review will focus on the utilisation and limitations of exercise testing and prescription for both adults and children, in the management of McArdle Disease, long chain fatty acid oxidation disorders, and primary mitochondrial myopathies.

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Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group

Cited by 30 publications

References 85 publications

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease

Muscle cramps and contractures: causes and treatment

Exercise testing and prescription in patients with inborn errors of muscle energy metabolism

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