Exercise and Preexercise Nutrition as Treatment for McArdle Disease

Nogales‐Gadea, Gisela; Santalla, Alfredo; Ballester-Lopez, Alfonsina; Arenas, Joaquı́n; Martín, Miguel A.; Godfrey, Richard; Pinís, Tomàs; Pintos-Morell, Guillem; Coll-Cantí, Jaume; Lucía, Alejandro

doi:10.1249/mss.0000000000000812

Cited by 26 publications

(21 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Early diagnosis, ideally when the individual is still a child, is important to facilitate learning the life skills required to manage the condition and prevent RM [3]. Timely diagnosis facilitates appropriate screening, management and prevention of known comorbidities associated with the condition such as sedentariness and obesity [4].…”

Section: Introductionmentioning

confidence: 99%

Misdiagnosis is an important factor for diagnostic delay in McArdle disease

Scalco

Morrow

Booth

et al. 2017

Neuromuscular Disorders

Self Cite

View full text Add to dashboard Cite

Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. The results demonstrated a high frequency of misdiagnosis (90%, n = 45/50) most commonly during childhood years (67%; n = 30/45) compared with teenage years and adulthood (teenage: n = 7/45; adult n = 5/45; not known n = 3/45). The correct diagnosis of McArdle disease was rarely made before adulthood (median age of diagnosis 33 years). Thirty-one patients (62%) reported having received more than one misdiagnosis; the most common were "growing pains" (40%, n = 20) and "laziness/being unfit" (46%, n = 23). A psychiatric/psychological misdiagnosis was significantly more common in females than males (females 6/20; males 1/30; p < 0.01). Of the 45 patients who were misdiagnosed, 21 (47%) received incorrect management. This study shows that most patients with McArdle disease received an incorrect explanation of their symptoms providing evidence that misdiagnosis plays an important part in delaying implementation of appropriate medical advice and management to this group of patients.

show abstract

Section: Introductionmentioning

confidence: 99%

Misdiagnosis is an important factor for diagnostic delay in McArdle disease

Scalco

Morrow

Booth

et al. 2017

Neuromuscular Disorders

Self Cite

View full text Add to dashboard Cite

show abstract

“…[4] Myophosphorylase is the form of glycogen phosphorylase found in skeletal muscle that converts stored glycogen into glucose-1-phosphate, which then enters glycolysis to produce available energy. [5] In the absence of myophosphorylase, the body is unable to use the glycogen stored in skeletal muscle for energy. This disease is known as a pure myopathy since only the muscle isoform of glycogen phosphorylase is affected while the liver and brain isoforms remain unaffected.…”

Section: Discussionmentioning

confidence: 99%

A case of recurrent, spontaneous rhabdomyolysis: A manifestation of McArdle disease

Crowder

Nasser

Sizemore

2020

CRIM

View full text Add to dashboard Cite

Background: McArdle Disease is a glycogen storage disease caused by an inherited deficiency in myophosphorylase, an enzyme that initiates the breakdown of muscle glycogen for glycolysis. Due to clinical variability and low prevalence, this disease is often delayed in diagnosis. Patients may present in early adulthood, suffering from exercise intolerance, muscle fatigue, myalgias, and potential end-organ damage from rhabdomyolysis and myoglobinuria. Diagnosis is confirmed with muscle biopsy showing an absence of myophosphorylase activity and can be confirmed with PYGM genetic sequencing. Treatment is preventative through dietary control with the use of complex carbohydrates and the ingestion of simple carbohydrates prior to aerobic activity.Case presentation: A 19-year-old Caucasian male presented with a four-day history of rhabdomyolysis and acute kidney injury triggered by diving into cold water and swimming. The patient had developed muscle spasms and dyspnea, followed by a period of emesis, dysuria, and numbness in the lower extremities. Laboratory tests revealed creatinine kinase levels greater than 100,000 U/L and creatinine of 1.6 mg/dl. The patient had experienced a similar episode three months prior that occurred after sprinting, requiring hospitalization secondary to rhabdomyolysis. After eliminating reversible causes for rhabdomyolysis, there was high clinical suspicion for McArdle Disease, confirmed by muscle biopsy with absent phosphorylase activity. The patient was managed with parenteral fluids to treat the rhabdomyolysis and counseled on preventative dietary and exercise strategies.Conclusions: The late onset of presentation of McArdle Disease should prompt consideration of metabolic myopathies in a systemic evaluation for cases of recurrent rhabdomyolysis.

show abstract

“…Resistance exercise training should not be recommended unless training sessions are individually supervised by experienced fitness specialists with experience of looking after people with GSDV and patients should always consult their physician first. Carbohydrate drinks should always be taken prior to resistance exercises [37].…”

Section: Exercise As Treatment For Gsdvmentioning

confidence: 99%

“…For children with GSDV, it is important to provide parents, caregivers and educators (especially physical education teachers) with appropriate information to ensure that the best possible management strategies are implemented. It is recommended that all patients with GSDV should adopt an active lifestyle as possible [37].…”

Section: Exercise As Treatment For Gsdvmentioning

confidence: 99%