Natural History of Serum Enzyme Levels in Duchenne Muscular Dystrophy and Implications for Clinical Practice

Rodríguez‐Cruz, Maricela; Almeida-Becerril, Tomas; Atilano-Miguel, Salvador; Cárdenas‐Conejo, Alan; Bernabe‐García, Mariela

doi:10.1097/phm.0000000000001500

Cited by 8 publications

(7 citation statements)

References 28 publications

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“…These findings were confirmed by serum creatinine levels and histopathology tests such as muscle biopsy and immune pathology. 16 Further, it is genetically confirmed to understand the deletions and mutations in the gene. Leakage of proteins into serum is observed due to repeated contractions and increased permeability of sarcolemma.…”

Section: Discussionmentioning

confidence: 99%

Study of Clinical Features and Diagnosis Pattern of Duchene Muscular Dystrophy in Southern India

Sattenapalli

Areti

et al. 2022

JNRP

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Background Duchene muscular dystrophy (DMD) is an X-linked progressive muscle disorder that is characterized by proximal muscle weakness followed by a premature death in young boys. There is a low index of reports on diagnosis ratio and clinical features in Southern India. Objective The present study aimed to conduct an observational survey on preliminary analysis, family history, associated complaints, and diagnosis ratio of DMD in southern regions of India. Materials and Methods A systematic observation and survey were conducted on clinically confirmed DMD patients registered between 2019 and 2021 through the questionnaire. The questionnaire and pattern of study were identified by exploring published and unpublished studies available from electronic databases and critical assessment criteria considered by physicians. Preliminary analysis such as onset criteria, motor difficulties, milestone delay; family history and consanguinity analysis; chief complaints (ambulatory status, lordosis, respiratory, and cardiac outcomes), associated complaints such as enlarged tongue, oral hygiene, behavioral problems; and other similar parameters were studied. An assessment of the diagnosis rate and pattern was performed. Statistical analysis The data were reviewed and interpreted through statistical methods mean ± standard deviation represented as a percentage. Results In total, 400 DMD patients were included and 250 participated in the study. The onset age group was 2 to 5 years in 37% of the population. Milestone delay was seen in 86%; consanguinity marriage of parents was reported in 39%. Frequent falls were reported in 62% in 5 to 8 years old group. Wheelchair status was reported in 65% in 9 to 12 years old. Cervical and lumbar lordoses were seen in 57 and 69%, respectively, in above 13 years old. Respiratory and cardiac complications were 88 and 78% reported in above 13 years old, respectively. Other major associated complaints such as enlarged tongue were reported in 79%. Fifty-one percent underwent genetic diagnosis and 79% of the population underwent serum creatine phosphokinase (CPK) analysis for the confirmation of DMD. Conclusion In this study population of South India, milestone delay was a major observation. Although there was a slight margin, family history shows “no blood relation among parents” in the majority of the study population. Chief complaints were predominantly severe above 13-year age group population. Serum CPK was the first choice for the first investigation, which is followed by a genetic diagnosis.

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Section: Discussionmentioning

confidence: 99%

Study of Clinical Features and Diagnosis Pattern of Duchene Muscular Dystrophy in Southern India

Sattenapalli

Areti

et al. 2022

JNRP

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“…Cardiorespiratory complications are the most frequent causes of death in these patients 15 . Patients with DMD present metabolic alterations such as hyperinsulinemia, insulin resistance, elevated inflammation markers, changes in body composition, including BMD [2][3][4][5] , and increased risk of bone fragility due to prolonged glucocorticoid treatment and loss of mobility, sometimes resulting in osteopenia and osteoporosis 6 .…”

Section: Duchenne Muscular Dystrophymentioning

confidence: 99%

“…These patients show metabolic alterations such as hyperinsulinemia, insulin resistance, elevated inflammatory markers, alterations in body composition, and decreased bone mineral density (BMD). DMD is associated with an increased risk of bone fragility [2][3][4][5] due to the adverse effects of prolonged glucocorticoid therapy and loss of mobility, sometimes resulting in osteopenia and osteoporosis 6 .…”

Section: Introductionmentioning

confidence: 99%

Duchenne muscular dystrophy: RANK/RANKL/OPG (receptor activator of nuclear factor-kB/RANK ligand/osteoprotegerin) system and glucocorticoids

Atilano-Miguel¹,

Barbosa-Cortés²,

Ortiz-Muñiz³

2022

BMHIM

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Duchenne muscular dystrophy (DMD) is an X-linked inherited disorder. Patients present with decreased bone mineral density (BMD) due to glucocorticoid therapy and progressive muscle weakness. Bone remodeling allows bone volume and structure to be maintained and controlled by local and systemic factors. These include the receptor activator of the nuclear factor-kB (RANK)/RANK ligand (RANKL)/osteoprotegerin (OPG) system, a determining pathway in the balance between bone formation and resorption. Disruptions in this complex, caused by factors such as glucocorticoids, can affect bone metabolism. The extensive action of the RANK/RANKL/ OPG pathway suggests an influence on dystrophic muscle pathophysiology. This review aimed to highlight some aspects of the RANK/RANKL/OPG system, the effect of glucocorticoids on this pathway, and the pathophysiology of the patient with DMD.

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“…4,5 The release of creatine phosphokinase (CPK), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) reflect the muscle injury. 6 Additionally, metabolic alterations like overweight, obesity, hyperinsulinemia, insulin resistance, hypertriglyceridemia, and metabolic syndrome could be associated with the pathophysiological processes in DMD; 7,8 the microRNAs (miRNAs) might play a role. Using bioinformatic analysis for dysregulated miRNAs, Amor et al predicted a central role in the perturbation of lipid metabolism in DMD.…”

Section: Introductionmentioning

confidence: 99%

“…During the natural history of DMD, muscle injury is exacerbated by chronic inflammation and oxidative stress 4,5 . The release of creatine phosphokinase (CPK), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) reflect the muscle injury 6 . Additionally, metabolic alterations like overweight, obesity, hyperinsulinemia, insulin resistance, hypertriglyceridemia, and metabolic syndrome could be associated with the pathophysiological processes in DMD; 7,8 the microRNAs (miRNAs) might play a role.…”

Section: Introductionmentioning

confidence: 99%

Natural history of circulating miRNAs in Duchenne disease: Association with muscle injury and metabolic parameters

Almeida-Becerril

Rodríguez‐Cruz

Hernández‐Cruz

et al. 2022

Acta Neuro Scandinavica

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This study aimed to evaluate whether the expression of circulating dys-tromiRs and a group of oxidative stress-related (OS-R) miRNAs is associated with muscle injury and circulating metabolic parameters in Duchenne muscular dystrophy (DMD) patients. Methods: Twenty-four DMD patients were included in this cross-sectional study. Clinical scales to evaluate muscle injury (Vignos, GMFCS, Brooke, and Medical Research Council), enzymatic muscle injury parameters (CPK, ALT, and AST), anthropometry, metabolic indicators, physical activity, serum dystromiRs (miR-1-3p, miR-133a-3p, and miR-206), and OS-R miRNAs (miR-21-5p, miR-31-5p, miR-128-3p, and miR-144-3p) levels were measured in ambulatory and non-ambulatory DMD patients. Results: DystromiRs (except miR-1-3p) and miRNAs OS-R levels were lower (p-value <.05) in the non-ambulatory group than the ambulatory group. The expression of those miRNAs correlated with Vignos scale score (For instance, rho = −0.567, p-value <0.05 for miR-21-5p) and with other scales scores of muscle function and strength. CPK, AST, and ALT concentration correlated with expression of all miRNAs (For instance, rho = 0.741, p-value <.05 between miR-206 level and AST concentration). MiR-21-5p level correlated with glucose concentration (rho = −0.369, p-value = .038), and the miR-1-3p level correlated with insulin concentration (rho = 0.343, p-value = .05). Conclusions: Non-ambulatory DMD patients have lower circulating dystromiRs and OS-R miRNAs levels than ambulatory DMD patients. The progressive muscle injury | 513 ALMEIDA-BECERRIL et al.

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Natural History of Serum Enzyme Levels in Duchenne Muscular Dystrophy and Implications for Clinical Practice

Cited by 8 publications

References 28 publications

Study of Clinical Features and Diagnosis Pattern of Duchene Muscular Dystrophy in Southern India

Study of Clinical Features and Diagnosis Pattern of Duchene Muscular Dystrophy in Southern India

Duchenne muscular dystrophy: RANK/RANKL/OPG (receptor activator of nuclear factor-kB/RANK ligand/osteoprotegerin) system and glucocorticoids

Natural history of circulating miRNAs in Duchenne disease: Association with muscle injury and metabolic parameters

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