Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan

Umakhanova, Zoya R.; Бардаков, С. Н.; Мавликеев, М. О.; Chernova, Olga N.; Магомедова, Р. М.; Akhmedova, Patimat G.; Yakovlev, Ivan A.; Dalgatov, Gimat D.; Федотов, Валерій Павлович; Исаев, А. А.; Деев, Р. В.

doi:10.3389/fneur.2017.00145

Cited by 3 publications

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“…1, see Table , Supplemental Digital Content A.2 , http://links.lww.com/JCND/A58). 12–142 Included data were primarily derived from case reports (n = 74), although patient-level data were also commonly available from retrospective (n = 22) and prospective (n = 18) studies. Of studies reporting a geographic location, over 35 countries were represented, with the most studies conducted in the United States (n = 14) and Germany (n = 13).…”

Section: Resultsmentioning

confidence: 99%

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review

Cheung,

Audhya,

Szabo

et al. 2023

Journal of Clinical Neuromuscular Disease

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Objectives: As the clinical course of autosomal recessive limb–girdle muscular dystrophy (LGMDR) is highly variable, this study characterized the frequency of loss of ambulation (LOA) among patients by subtype (LGMDR1, LGMDR2, LGMDR3–6, LGMDR9, LGMDR12) and progression to cardiac and respiratory involvement among those with and without LOA. Methods: Systematic literature review. Results: From 2929 abstracts screened, 418 patients were identified with ambulatory status data (LOA: 265 [63.4%]). Cardiac and/or respiratory function was reported for 142 patients (34.0%; all with LOA). Among these, respiratory involvement was most frequent in LGMDR3–6 (74.1%; mean [SD] age 23.9 [11.0] years) and cardiac in LGMDR9 (73.3%; mean [SD] age 23.7 [17.7] years). Involvement was less common in patients without LOA except in LGMDR9 (71.4% respiratory and 52.4% cardiac). Conclusions: This study described the co-occurrence of LOA, cardiac, and respiratory involvement in LGMDR and provides greater understanding of the clinical progression of LGMDR.

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Section: Resultsmentioning

confidence: 99%

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review

Cheung,

Audhya,

Szabo

et al. 2023

Journal of Clinical Neuromuscular Disease

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Changes in the pathomorphological condition of the myocardium in dysferlinopathy mice (Bla/J type)

Savelyeva,

Bardakov,

Emelin

et al. 2024

Morphology

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BACKGROUND: Dysferlinopathy is heritable progressing muscular dystrophy which is caused by mutation in gene DYSF. Currently, there is skeletal muscle pathology definition, bur there is only fragmentary and limited myocardium hystopathology data. AIM: execution of analysis of pathomorphological status of myocardium in Bla/J mice of different age, which are the model of dysferlinopathy. METHODS: Material is illustrated by the example of two experimental groups: Bla/J mice with knockout DYSF gene on 3, 6, 12 months old and control wild Balb/C mice 6 months old. There was study of expression and pattern of dyeing of protein dysferlin in immunofluorescent search method. There was held such parameters as hystological charachteristic of myocardium of three dyeing protocols (hematoxylin and eosin, iron hematoxylin by Rego, hematoxylin-basic fuchsin-picric acid by Lie), morphometry of the parameters of cardiomyocytes (length, width of cardiomyocytes and nuclear perimeter). RESULTS: The immunofluorescent search method revealed high quantity of dysferlin in myocardium only in control group. Statistical analysis showed the significant differences between Bla/J and Balb/C mice: the increasing length and width of cardiomyocytes in dysferlinopathy — by 49,9 (95% confidence interval: 45,9–57,4)% and by 35,6 (95% confidence interval: 32,9–37,9)% respectively. Nucleus perimeter was significantly reduced in dysferlinopathy group with 6 months disease duration (by 23,9 (95% confidence interval: 20,2–27,5)% in comparing with 3 months group, and by 18,8 (95% confidence interval: 8,5–19,7)% in comparing with the control. Consequently, there were found progressive hypertrophy of cardiomyocytes and increasing deformation in cardiomyocytes, intercalated discs destruction, hypoxia features and necrosis indication resulting fibrosis. There was pattern of cardiomyocytes size reduction in dependence with aging process. CONCLUSION: Dysferlin deficiency leads to significant damage in myocardium in Bla/J mice.

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Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review

Audhya

Cheung²,

Szabo³

et al. 2022

JND

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Background The impact of age at autosomal recessive limb girdle muscular dystrophy (LGMDR) onset on progression to loss of ambulation (LOA) has not been well established, particularly by subtype. Objectives: To describe the characteristics of patients with adult-, late childhood-, and early childhood-onset LGMDR by subtype and characterize the frequency and timing of LOA. Methods: A systematic review was conducted in MEDLINE, Embase and the Cochrane library. Frequency and timing of LOA in patients with LGMDR1, LGMDR2/Miyoshi myopathy (MM), LGMDR3-6, LGMDR9, and LGMDR12 were synthesized from published data. Results: In 195 studies, 695 (43.4%) patients had adult-, 532 (33.2%) had late childhood-, and 376 (23.5%) had early childhood-onset of disease across subtypes among those with a reported age at onset (n = 1,603); distribution of age at onset varied between subtypes. Among patients with LOA (n = 228), adult-onset disease was uncommon in LGMDR3-6 (14%) and frequent in LGMDR2/MM (42% ); LGMDR3-6 cases with LOA primarily had early childhood-onset (74% ). Mean (standard deviation [SD]) time to LOA varied between subtypes and was shortest for patients with early childhood-onset LGMDR9 (12.0 [4.9] years, n = 19) and LGMDR3-6 (12.3 [10.7], n = 56) and longest for those with late childhood-onset LGMDR2/MM (21.4 [11.5], n = 36). Conclusions: This review illustrated that patients with early childhood-onset disease tend to have faster progression to LOA than those with late childhood- or adult-onset disease, particularly in LGMDR9. These findings provide a greater understanding of progression to LOA by LGMDR subtype, which may help inform clinical trial design and provide a basis for natural history studies.

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Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan

Abstract: Citation:Umakhanova ZR, Bardakov SN, Mavlikeev MO, Chernova ON, Magomedova RM, Akhmedova PG, Yakovlev IA, Dalgatov GD, Fedotov VP, Isaev AA and Deev RV (2017)

Cited by 3 publications

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Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review

Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review

Changes in the pathomorphological condition of the myocardium in dysferlinopathy mice (Bla/J type)

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review

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