RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE

Alsberge, Joseph B.; Chen, Judy J; Zaidi, Ali A.; Fu, Arthur D.

doi:10.1097/icb.0000000000000790

Cited by 7 publications

(6 citation statements)

References 5 publications

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“…Descriptions of extramuscular manifestations are rare; although in recent years, there have been a very small number of people with McArdle disease reported to have pattern retinal dystrophy (PRD). [12][13][14][15][16] Anecdotally, our group has observed frequent thyroid involvement in these patients and a first report has been recently made. 17 Following these observations, more attention has been paid by our team to detect possible extramuscular manifestations, with a particular interest in thyroid function and retinal abnormalities.…”

Section: Introductionmentioning

confidence: 90%

Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study

Pizzamiglio

Mahroo

Khan

et al. 2021

J of Inher Metab Disea

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McArdle disease is caused by recessive mutations in PYGM gene. The condition is considered to cause a "pure" muscle phenotype with symptoms including exercise intolerance, inability to perform isometric activities, contracture, and acute rhabdomyolysis leading to acute renal failure. This is a retrospective observational study aiming to describe phenotypic and genotypic features of a large cohort of patients with McArdle disease between 2011 and 2019. Data relating to genotype and phenotype, including frequency of rhabdomyolysis, fixed muscle weakness, gout and comorbidities, inclusive of retinal disease (pattern retinal dystrophy) and thyroid disease, were collected. Data from 197 patients are presented. Seven previously unpublished PYGM mutations are described. Exercise intolerance (100%) and episodic rhabdomyolysis (75.6%) were the most common symptoms. Fixed muscle weakness was present in 82 (41.6%) subjects. Unexpectedly, ptosis was observed in 28 patients (14.2%). Hyperuricaemia was a common finding present in 88 subjects (44.7%), complicated by gout in 25% of cases. Thyroid dysfunction was described in 30 subjects (15.2%), and in 3 cases, papillary thyroid cancer was observed.Pattern retinal dystrophy was detected in 15 out of the 41 subjects that underwent an ophthalmic assessment (36.6%). In addition to fixed muscle weakness, ptosis was a relatively common finding. Surprisingly, dysfunction of thyroid and retinal abnormalities were relatively frequent comorbidities. Further studies are needed to better clarify this association, although our finding may have important implication for patient management.

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Section: Introductionmentioning

confidence: 90%

Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study

Pizzamiglio

Mahroo

Khan

et al. 2021

J of Inher Metab Disea

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“…So far, no experimental data explain the exact role of PYGM in this process. However, it is known that retinopathy can be one of the symptoms in muscle glycogen phosphorylase deficiency (McArdle disease) [ 29 , 36 , 37 , 38 ]. Analysis of the PYGM expression pattern leads to the conclusion that impaired glycogen metabolism, both in the retinal pigment epithelium and in cone photoreceptors, is involved in McArdle disease-linked retinopathy [ 29 ].…”

Section: The Biological Importance Of Pygmmentioning

confidence: 99%

“…Several case reports and longitudinal case studies have confirmed that retinopathy is an additional clinical phenotype feature associated with McArdle disease [ 29 , 36 , 37 , 38 , 49 ]. In the case of McArdle patients, the lack of PYGM may impair the ability of retinal pigment epithelium and cone photoreceptors to obtain sufficient energy, which may further lead to pathological changes [ 29 ].…”

Section: The Biological Importance Of Pygmmentioning

confidence: 99%

Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease

Migocka-Patrzałek

Elías

2021

Cells

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Glycogen phosphorylase (PG) is a key enzyme taking part in the first step of glycogenolysis. Muscle glycogen phosphorylase (PYGM) differs from other PG isoforms in expression pattern and biochemical properties. The main role of PYGM is providing sufficient energy for muscle contraction. However, it is expressed in tissues other than muscle, such as the brain, lymphoid tissues, and blood. PYGM is important not only in glycogen metabolism, but also in such diverse processes as the insulin and glucagon signaling pathway, insulin resistance, necroptosis, immune response, and phototransduction. PYGM is implicated in several pathological states, such as muscle glycogen phosphorylase deficiency (McArdle disease), schizophrenia, and cancer. Here we attempt to analyze the available data regarding the protein partners of PYGM to shed light on its possible interactions and functions. We also underline the potential for zebrafish to become a convenient and applicable model to study PYGM functions, especially because of its unique features that can complement data obtained from other approaches.

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“…Although PYGM expression still needs to be measured in these cells, four McArdle disease case reports with RPE dystrophy may indicate that this dystrophy can be related to PYGM mutations. Further, genetic screenings have demonstrated that these patients present mutations in the PYGM gene and not in the known dystrophy-causing genes, thus showing a possible relationship between retinopathy and McArdle disease [51,52].…”

Section: Pygm Expression In Other Tissuesmentioning

confidence: 99%

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms

Llavero

Sastre

Montoro

et al. 2019

IJMS

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McArdle disease, also known as glycogen storage disease type V (GSDV), is characterized by exercise intolerance, the second wind phenomenon, and high serum creatine kinase activity. Here, we recapitulate PYGM mutations in the population responsible for this disease. Traditionally, McArdle disease has been considered a metabolic myopathy caused by the lack of expression of the muscle isoform of the glycogen phosphorylase (PYGM). However, recent findings challenge this view, since it has been shown that PYGM is present in other tissues than the skeletal muscle. We review the latest studies about the molecular mechanism involved in glycogen phosphorylase activity regulation. Further, we summarize the expression and functional significance of PYGM in other tissues than skeletal muscle both in health and McArdle disease. Furthermore, we examine the different animal models that have served as the knowledge base for better understanding of McArdle disease. Finally, we give an overview of the latest state-of-the-art clinical trials currently being carried out and present an updated view of the current therapies.

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RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE

Cited by 7 publications

References 5 publications

Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study

Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study

Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms

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