Glycogen storage disease type V

Knipe, Henry; Shenton, Ayeshea

doi:10.53347/rid-65861

Cited by 3 publications

(4 citation statements)

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“…McArdle disease is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and muscle cramps 37 . Pathogenic variants in the PYGM gene were identified in 33 (2.6%) patients.…”

Section: Discussionmentioning

confidence: 99%

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Nallamilli,

Pan,

Sniderman King

et al. 2023

Ann Clin Transl Neurol

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ObjectiveClinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and copy number variants in one assay.MethodsPatients with clinical diagnosis of LGMD or other overlapping muscular dystrophies in the United States were tested by PerkinElmer Genomics in 2018–2021 via “The Lantern Project,” a sponsored diagnostic testing program. Sixty‐six genes related to LGMD subtypes‐ and other myopathies were investigated. Main outcomes were diagnostic yield, gene‐variant spectrum, and LGMD subtypes' prevalence.ResultsMolecular diagnosis was established in 19.6% (1266) of 6473 cases. Major genes contributing to LGMD were identified including CAPN3 (5.4%, 68), DYSF (4.0%, 51), GAA (3.7%, 47), ANO5 (3.6%, 45), and FKRP (2.7%, 34). Genes of other overlapping MD subtypes identified included PABPN1 (10.5%, 133), VCP (2.2%, 28), MYOT (1.2% 15), LDB3 (1.0%, 13), COL6A1 (1.5%, 19), FLNC (1.1%, 14), and DNAJB6 (0.8%, 10). Different sizes of copy number variants including single exon, multi‐exon, and whole genes were identified in 7.5% (95) cases in genes including DMD, EMD, CAPN3, ANO5, SGCG, COL6A2, DOK7, and LAMA2.Interpretation“The Lantern Focused Neuromuscular Panel” enables identification of LGMD subtypes and other myopathies with overlapping clinical features. Prevalence of some MD subtypes was higher than previously reported. Widespread deployment of this comprehensive NGS panel has the potential to ensure early, accurate diagnosis as well as re‐define MD epidemiology.

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Section: Discussionmentioning

confidence: 99%

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Nallamilli,

Pan,

Sniderman King

et al. 2023

Ann Clin Transl Neurol

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“…Other manifestations include elevated CK (usually), propensity for rhabdomyolysis 7,25 , contractures, risk of compartment syndrome 7,25 and variable symptoms of weakness Second-wind phenomenon 178 almost unique to GSD V (also seen in PGM1-CDG), pre-exercise ingestion of sucrose improves exercise intolerance 76 GSD VI (Hers disease)…”

Section: Gsd V (Mcardle Disease)mentioning

confidence: 99%

“…Biallelic variants of PYGM are associated with the metabolic myopathy GSD V (also known as McArdle disease) 25 . Moreover, a monoallelic PYGM missense variant has been reported in individuals with an autosomal dominant GSD characterized by age-dependent muscle weakness and wasting but no energy deficiency and thus no exercise intolerance; functional and histological differences between this new GSD and GSD V have been described 26 .…”

Section: Primermentioning

confidence: 99%

Glycogen storage diseases

Hannah,

Derks,

Drumm

et al. 2023

Nat Rev Dis Primers

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Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future research directions. Some GSDs have available guidelines for diagnosis and management. Diagnostic considerations include phenotypic characterization, biomarkers, imaging, genetic testing, enzyme activity analysis and histology. Management includes surveillance for development of characteristic disease sequelae, avoidance of fasting in several hepatic GSDs, medically prescribed diets, appropriate exercise regimens and emergency letters. Specific therapeutic interventions are available for some diseases, such as enzyme replacement therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors for neutropenia and neutrophil dysfunction in GSD Ib. Progress in diagnosis, management and definitive therapies affects the natural course and hence morbidity and mortality. The natural history of GSDs is still being described. The quality of life of patients with these conditions varies, and standard sets of patient-centred outcomes have not yet been developed. The Nature Reviews Disease Primers | (2023) 9:46 2 0123456789();: Primer caused by genetic defects that are associated predominantly with abnormalities of glycogen metabolism and that are recognized in the literature as GSDs, namely, GSD 0a, GSD 0b, GSD I, Pompe disease, GSD III, GSD IV, GSD V, GSD VI, GSD VII, GSD IX, GSD X, GSD XI (lactate dehydrogenase sub unit A deficiency), GSD XII, GSD XIII, phosphoglucomutase 1 deficiency-congenital disorder of glycosylation (PGM1-CDG; previously called GSD XIV), GSD XV, Fanconi-Bickel syndrome (FBS) and phosphoglycerate kinase (PGK) deficiency. Of note, both lactate dehydrogenase subunit A deficiency and FBS are sometimes referred to as GSD XI in the literature. In this Review, GSD XI refers to lactate dehydrogenase subunit A deficiency, and FBS is referred to by eponym.GSDs seem to represent a phenotypic disease continuum. Compelling examples of this continuum include infantile-onset and late-onset Pompe disease and prenatal-onset GSD IV and adult-onset GSD IV, which is also known as adult polyglucosan body disease (APBD). For example, infantile-onset and late-onset Pompe disease have the same mechanism, which is accumulation of glycogen in lysosomes owing to variants in GAA that cause poor function of the GAA enzyme. The severity of disease and clinical manifestations differ between infantile-onset and late-onset disease owing to genotype-phenotype correlation.Owing to the similar disease mechanisms, the differences in severity and presentation reflect a continuum of one disease process. Understanding of the variable expressivity of these rare conditions improved with the identification of more patients with time, increased awareness and improved genetic testing (which...

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“…This case report will guide the clinician through the process of evaluating recurrent rhabdomyolysis, working through the differential diagnosis and testing options. 1…”

mentioning

confidence: 99%

Repeatedly in Rhabdomyolysis

2020

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Repeated presentations of a rare symptom in a patient should make a physician stop and evaluate for rare conditions. This is a report of a teenager with multiple episodes of rhabdomyolysis and weakness. He was eventually diagnosed as having McArdle muscular dystrophy, or glycogen storage disease type V. His rhabdomyolysis has been severe, with a creatinine kinase level of >320,000 U/L, myoglobinuria, transaminitis, and elevated bilirubin. He has a low threshold for triggering rhabdomyolysis, such as doing an hour of aerobic exercise 2 days in a row. McArdle disease is a glycogen storage disorder in which the skeletal muscle cannot convert glycogen to glucose. Unlike other glycogen storage disorders, McArdle muscular dystrophy only affects the skeletal muscle, sparing the brain and visceral organs, leading to a vague phenotype. These patients have exercise intolerance, muscle cramps, and rhabdomyolysis. Many patients report loading with simple carbohydrates before exercise, as they have learned that this can increase their stamina. The vague symptoms can lead to decades of delay in diagnosis and significant mismanagement. Rhabdomyolysis is the most dangerous sign of McArdle disease, and it can lead to acute kidney injury, resulting in renal failure requiring dialysis in the severest cases.Rhabdomyolysis has numerous causes, but when it is recurrent, especially with seemingly insignificant triggers, one needs to develop a broader differential and pursue advanced testing. This testing can include specific exercise tests, genetic sequencing, and muscle biopsy. This case report will guide the clinician through the process of evaluating recurrent rhabdomyolysis, working through the differential diagnosis and testing options. 1

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Glycogen storage disease type V

Cited by 3 publications

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Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Glycogen storage diseases

Repeatedly in Rhabdomyolysis

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