Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports

Nozoe, Karen Tieme; Akamine, Ricardo Tera; Mazzotti, Diego R.; Polesel, Daniel Ninello; Grossklauss, Luis Fernando; Tufik, Sérgio; Andersen, Mônica Levy; Moreira, Gustavo

doi:10.1016/j.slsci.2016.07.004

Cited by 30 publications

(27 citation statements)

References 27 publications

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“…DMD affects mainly boys, but symptomatic female carriers, with the variable manifestation of the disease symptoms, are also described [ 126 – 128 ]. Preclinical studies on animal models of DMD investigate mostly male mice, but some were performed without respect to sex [ 129 , 130 ] or were done solely on female mice [ 111 , 118 , 119 ].…”

Section: Sex Influences Dystrophic Phenotype and Angiogenesis Processmentioning

confidence: 99%

Targeting angiogenesis in Duchenne muscular dystrophy

Podkalicka

Mucha

Dulak

et al. 2019

Cell. Mol. Life Sci.

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Duchenne muscular dystrophy (DMD) represents one of the most devastating types of muscular dystrophies which affect boys already at early childhood. Despite the fact that the primary cause of the disease, namely the lack of functional dystrophin is known already for more than 30 years, DMD still remains an incurable disease. Thus, an enormous effort has been made during recent years to reveal novel mechanisms that could provide therapeutic targets for DMD, especially because glucocorticoids treatment acts mostly symptomatic and exerts many side effects, whereas the effectiveness of genetic approaches aiming at the restoration of functional dystrophin is under the constant debate. Taking into account that dystrophin expression is not restricted to muscle cells, but is present also in, e.g., endothelial cells, alterations in angiogenesis process have been proposed to have a significant impact on DMD progression. Indeed, already before the discovery of dystrophin, several abnormalities in blood vessels structure and function have been revealed, suggesting that targeting angiogenesis could be beneficial in DMD. In this review, we will summarize current knowledge about the angiogenesis status both in animal models of DMD as well as in DMD patients, focusing on different organs as well as age-and sex-dependent effects. Moreover, we will critically discuss some approaches such as modulation of vascular endothelial growth factor or nitric oxide related pathways, to enhance angiogenesis and attenuate the dystrophic phenotype. Additionally, we will suggest the potential role of other mediators, such as heme oxygenase-1 or statins in those processes.

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Section: Sex Influences Dystrophic Phenotype and Angiogenesis Processmentioning

confidence: 99%

Targeting angiogenesis in Duchenne muscular dystrophy

Podkalicka

Mucha

Dulak

et al. 2019

Cell. Mol. Life Sci.

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“…22,29,69 If the mother is found not to be a carrier, the presence of a de novo mutation should be explained; de novo mutations are thought to occur in approximately one-third of isolated cases, and these have been reported throughout the literature. [70][71][72][73] Symptoms of female carriers can include calf pseudohypertrophy; cardiomyopathy; cramps; frequent falls; Gowers' sign; muscle weakness; myalgia [74][75][76][77] ; and in some cases, intellectual and mental health problems. 75,78,79 A recent study of 36 female DMD and BMD carriers showed that 47% (17/36) had at least 1 pathologic finding on cardiac magnetic resonance imaging, including left ventricular ejection fraction <55% (n = 5 [DMD, n = 4; BMD, n = 1]) and presence of late gadolinium enhancement (n = 16 [DMD, n = 13; BMD, n = 3]).…”

Section: Discussionmentioning

confidence: 99%

“…A + = 100% Strongly in favor Low 1C Carrier testing/family planning 11,[63][64][65][66][67][68][69][70][71][72][73] ; genetic counseling 71,74 ; prognosis/management 23,[75][76][77][78] ; natural history 7,79,80 ; prenatal diagnosis 12,31 ; and expert opinion Statement 14: After a patient receives a complete genetic diagnosis of DMD, it is mandatory that carrier testing of the mother and other at-risk female family members be offered with appropriate pre-and postgenetic counseling (information regarding germline mosaicism and de novo mutations should also be offered). Similarly, testing of other at-risk male family members should also be offered.…”

Section: The Journal Of Pediatrics • Wwwjpedscommentioning

confidence: 99%

“…64,70 Genetic testing is thus important for familyplanning decisions and counseling of other family members. 71,74 Genetic information also is used for genotype-phenotype correlations, 7,75,76,79,114 so that patients can be provided with prognostic information and be offered appropriate medical management. 11,23,77,78 As per the 2010 best practice guidelines for the molecular diagnosis of DMD/BMD, prenatal testing is advised to be carried out only for at-risk male pregnancies (those with a family history of the disease).…”

Section: January 2019mentioning

confidence: 99%

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Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Aartsma‐Rus

Hegde

Ben‐Omran

et al. 2019

The Journal of Pediatrics

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Section 1: Reducing the time to diagnosis of DMD Statement 1: The following signs, symptoms, and characteristics should be considered typical indicators of DMD: calf hypertrophy (pseudohypertrophy); delayed walking; difficulty climbing/descending stairs; difficulty rising from the floor; difficulty running/walking; elevated serum CK levels (including elevated ALT and AST); a family history of DMD; frequent falls; Gowers' sign; male sex; and muscle weakness. ALT, alanine aminotransferase; AST, aspartate aminotransferase; CGH, comparative genome hybridization; CK, creatine kinase; DMD, Duchenne muscular dystrophy; GRADE, Grading of Recommendations Assessment, Development, and Evaluation. *The level of evidence for most of the statements was graded as either low or moderate, owing to the fact that most of the studies included here are observational in nature rather than randomized controlled trials (due to the nature of this initiative). When there were multiple corroborative supporting observational studies, we have selected "moderate" for quality of evidence. †Consensus: A + = strongly agree; A = agree; N = neither agree nor disagree; D = disagree; D + = strongly disagree. Grade of recommendation: 1A = strong recommendation, high-quality evidence; 1B = strong recommendation, moderate-quality evidence; 1C = strong recommendation, low-quality or very low-quality evidence; 2A = weak recommendation, high-quality evidence; 2B = weak recommendation, moderate-quality evidence; 2C = weak recommendation, low-quality or very low-quality evidence. ‡Where applicable depending on country-specific legislation on presymptomatic testing of patients aged ≤18 years.

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“…Duchenne muscular dystrophy (DMD) is the most common and severe form (Sinha et al, 2017) and is classified as a life-limiting illness. It is a genetically determined, rapidly progressive degenerative disease (Shieh, 2018) and has an incidence rate of 1:3,500 male births and 1:50,000,000 female births (Nozoe et al, 2016). DMD is caused by genetic mutations on the "X" chromosome that inhibit production of dystrophin, which is a vital muscle protein (Mohammed et al, 2018).…”

Section: Theoretical and Research Basis For Treatmentmentioning

confidence: 99%

CBT for Anxiety Related to Parenting a Child with a Life-Limiting Neuromuscular Condition: A Single Case Study

Birdsey

2020

Clinical Case Studies

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Caring for a child with a neuromuscular condition such as Duchenne muscular dystrophy (DMD) presents many challenges, including managing the emotional impact of the diagnosis, managing extended periods of profound uncertainty, navigating the complexities of the healthcare system, managing the child’s physical symptoms, and supporting their emotional needs. Although it is encouraging that there is a growing body of research seeking to better understand the medical and treatment needs of those with DMD, the psychosocial needs of individuals and their families have traditionally been considered as ancillary to the child’s physical health needs. Consequently, there is limited research investigating the psychological wellbeing of those with DMD, and even less is known about the psychological wellbeing and needs of caregivers, who play a critical role in supporting their child. Caregivers experience multiple stressors and often encounter caring burden and high prevalence rates of anxiety and depression. This paper aims to explore the use of cognitive behavioral therapy (CBT) for comorbid anxiety and low mood in a parent of a child with DMD using a single case design. Results suggest that in the context of multiple stressors and significant life events, CBT was effective in improving mood and reducing symptoms of anxiety. This case highlights the value in offering support to parents of children with DMD and may have clinical implications for other neuromuscular and life-limiting conditions.

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Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports

Cited by 30 publications

References 27 publications

Targeting angiogenesis in Duchenne muscular dystrophy

Targeting angiogenesis in Duchenne muscular dystrophy

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

CBT for Anxiety Related to Parenting a Child with a Life-Limiting Neuromuscular Condition: A Single Case Study

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