Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India

Nashi, Saraswati; Polavarapu, Kiran; Bardhan, Mainak; Anjanappa, Ram Murthy; Preethish‐Kumar, Veeramani; Vengalil, Seena; Padmanabha, Hansashree; Geetha, Thenral S; Prathyusha, Parthipulli Vasuki; Ramprasad, Vedam; Joshi, Aditi; Chawla, Tanushree; Unnikrishnan, Gopikirshnan; Sharma, Pooja; Huddar, Akshata; Uppilli, Bharathram; Thomas, Abel; Baskar, Dipti; Mathew, Susi; Menon, Deepak; Arunachal, Gautham; Faruq, Mohammed; Thangaraj, Kumarasamy; Nalini, Atchayaram

doi:10.1007/s10048-022-00707-3

Cited by 3 publications

(1 citation statement)

References 22 publications

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“…It should be noted that, given the inherent lapse in time between running the search strategy and synthesis of findings for this systematic review, relevant studies may have been published while the review was being conducted, but will not have been included. 146,149,150 Furthermore, studies that reported relevant outcomes data across a cohort but did not report data for the age at assessment were excluded from the synthesis. In addition, although a systematic review of case reports or case series may not represent the highest level of evidence, estimates of prevalence and event rates through quantitative syntheses of case report data have previously provided clinically useful information in other diseases.…”

Section: Clinical Progression In Autosomal Recessivementioning

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: Clinical Progression In Autosomal Recessivementioning

confidence: 99%