Metabolic Myopathies

Tarnopolsky, Mark A.

doi:10.1212/con.0000000000001182

Cited by 6 publications

(6 citation statements)

References 130 publications

(223 reference statements)

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“…Specifically, we have shown a metabolic remodeling in Fabry patients characterized by reduced levels of acetyl-carnitine, fatty acids, and diacyl glycerol, alongside triglycerides accumulation, confirming the altered mitochondrial oxidation of lipids. A similar metabolic profile has been described for metabolic myopathies, a group of genetic myopathies characterized by an increased rate of anaerobic glycolysis, exercise intolerance, blood lactate accumulation, and reduction of circulating Acylcarnitine (48,49). Taken together, these considerations request a redefinition of Fabry disease as a metabolic disorder where the skeletal muscle is a key involved district, and exercise intolerance and fatigue are specific and primary symptoms to be managed.…”

Section: Relevance Of Skeletal Muscle Bioenergeticsmentioning

confidence: 69%

Fatigue as hallmark of Fabry disease: role of bioenergetic alterations

Gambardella,

Riccio,

Bianco

et al. 2024

Front. Cardiovasc. Med.

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Fabry disease (FD) is a lysosomal storage disorder due to the impaired activity of the α-galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction. Exercise intolerance and fatigue are frequent and early findings in FD patients, representing a self-standing clinical phenotype with a significant impact on the patient's quality of life. Several determinants can trigger fatigability in Fabry patients, including psychological factors, cardiopulmonary dysfunctions, and primary alterations of skeletal muscle. The “metabolic hypothesis” to explain skeletal muscle symptoms and fatigability in Fabry patients is growing acknowledged. In this report, we will focus on the primary alterations of the motor system emphasizing the role of skeletal muscle metabolic disarrangement in determining the altered exercise tolerance in Fabry patients. We will discuss the most recent findings about the metabolic profile associated with Fabry disease offering new insights for diagnosis, management, and therapy.

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Section: Relevance Of Skeletal Muscle Bioenergeticsmentioning

confidence: 69%

Fatigue as hallmark of Fabry disease: role of bioenergetic alterations

Gambardella,

Riccio,

Bianco

et al. 2024

Front. Cardiovasc. Med.

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“…Cardiac or respiratory involvement [4] is also frequent in several myopathies. Inherited myopathies are usually slowly progressive, following a “chronic” course, with some exceptions, such as metabolic myopathies [5], which may be associated with acute events. In contrast, in acquired (inflammatory or toxic) myopathies, onset is often abrupt with rapid worsening.…”

Section: Introductionmentioning

confidence: 99%

Hospital admissions from the emergency department of adult patients affected by myopathies

Monforte,

Torchia,

Bortolani

et al. 2024

Euro J of Neurology

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Background and purposeMyopathies are associated with classic signs and symptoms, but also with possible life‐threatening complications that may require assistance in an emergency setting. This phenomenon is understudied in the literature. We aimed to assess the presentation, management, and outcomes of clinical manifestations potentially related to a muscle disorder requiring referral to the adult emergency department (ED) and hospitalization.MethodsAnonymized patient data retrieved using the International Classification of Diseases, Ninth Revision codes related to muscle disorders over 4 years were retrospectively analyzed. Medical reports were evaluated to extract demographic and clinical variables, along with outcomes. Two groups were defined based on the presence (known diagnosis [KD] group) or absence (unknown diagnosis [UD] group) of a diagnosed muscle disorder at arrival.ResultsA total of 244 patients were included, 51% of whom were affected by a known myopathy, predominantly limb‐girdle muscular dystrophies and myotonic dystrophies. The main reasons for ED visits in the KD group were respiratory issues, worsening of muscle weakness, and gastrointestinal problems. Heart complications were less prevalent. In the UD group, 27 patients received a new diagnosis of a specific primary muscle disorder after the ED access, mostly an inflammatory myopathy. Death during hospitalization was recorded in 26 patients, with a higher rate in the KD group and in patients affected by mitochondrial and inflammatory myopathies. Sepsis and dyspnea were associated with increased death risk.ConclusionsRespiratory complications are the most common reason for myopathic patients accessing the ED, followed by gastrointestinal issues. Infections are severe threats and, once hospitalized, these patients have relatively high mortality.

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“…The low sensitivity and specificity of classical laboratory studies, such as creatine kinase (CK) or lactate levels, to detect PMM further complicate the clinical scenario [ 6 ]. Furthermore, even genetic testing for mitochondrial myopathies can remain elusive when performed on tissues such as blood and urine, eventually leading to more invasive studies, including muscle biopsy, to obtain morphologic and/or genetic evidence to confirm or exclude this diagnosis [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome

Bermejo-Guerrero

Hoz

Guerrero-Molina

et al. 2023

JCM

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Primary mitochondrial myopathies (PMM) are a clinically and genetically highly heterogeneous group that, in some cases, may manifest exclusively as fatigue and exercise intolerance, with minimal or no signs on examination. On these occasions, the symptoms can be confused with the much more common chronic fatigue syndrome (CFS). Nonetheless, other possibilities must be excluded for the final diagnosis of CFS, with PMM being one of the primary differential diagnoses. For this reason, many patients with CFS undergo extensive studies, including extensive genetic testing and muscle biopsies, to rule out this possibility. This study evaluated the diagnostic performance of growth differentiation factor-15 (GDF-15) as a potential biomarker to distinguish which patient with chronic fatigue has a mitochondrial disorder. We studied 34 adult patients with symptoms of fatigue and exercise intolerance with a definitive diagnosis of PMM (7), CFS (22), or other non-mitochondrial disorders (5). The results indicate that GDF-15 can accurately discriminate between patients with PMM and CFS (AUC = 0.95) and between PMM and patients with fatigue due to other non-mitochondrial disorders (AUC = 0.94). Therefore, GDF-15 emerges as a promising biomarker to select which patients with fatigue should undergo further studies to exclude mitochondrial disease.

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Metabolic Myopathies

Cited by 6 publications

References 130 publications

Fatigue as hallmark of Fabry disease: role of bioenergetic alterations

Fatigue as hallmark of Fabry disease: role of bioenergetic alterations

Hospital admissions from the emergency department of adult patients affected by myopathies

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome

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