scholarly journals Transitioning to adulthood with a progressive condition: best practice assumptions and individual experiences of young men with Duchenne muscular dystrophy

2014 ◽  
Vol 37 (13) ◽  
pp. 1144-1151 ◽  
Author(s):  
Yani Hamdani ◽  
Bhavnita Mistry ◽  
Barbara E. Gibson
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Best Practice ◽  
Young Men

scholarly journals Respiratory Telerehabilitation of Boys and Young Men with Duchenne Muscular Dystrophy in the COVID-19 Pandemic

2021 ◽  
Vol 18 (12) ◽  
pp. 6179
Author(s):  
Agnieszka Sobierajska-Rek ◽  
Łukasz Mański ◽  
Joanna Jabłońska-Brudło ◽  
Karolina Śledzińska ◽  
Eliza Wasilewska ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Physical Therapy ◽  
Muscular Dystrophy ◽  
Healthcare System ◽  
Online Survey ◽  
Young Men ◽  
The Mean ◽  
Respiratory Exercises

Background: The COVID-19 pandemic forced reorganization of the multidisciplinary healthcare system for Duchenne muscular dystrophy. Digital solutions seem to be optimal for providing rehabilitation at this time. The aim of this study was to investigate whether it is possible to conduct respiratory physical therapy with the use of telerehabilitation in Duchenne muscular dystrophy. Methods: The study was conducted during an online conference for families with DMD. During the physical therapy panel we showed the video with the instructions of respiratory exercises. All participants (n = 152) were asked to fill in the online survey evaluating the quality, acceptance, and understanding of the instructions. Results: The survey was filled in by 45 (29.6%) participants. The mean rating of satisfaction was 4.70/5, and for intelligibility was 4.78/5. Thirty-seven (82.2%) patients declared that they had performed the exercises, all caregivers declared that it was possible to perform the proposed exercises a few times a week or daily, and only two respondents replied to invitations to individual online sessions. Conclusions: Findings from the study show that respiratory telerehabilitation may be implemented for DMD patients; however, the interest in digital rehabilitation among caregivers of DMD boys in Poland is low. The reasons for this situation require further research.

scholarly journals Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East

2021 ◽  
Vol 9 ◽  
Author(s):  
Fouad Alghamdi ◽  
Asmaa Al-Tawari ◽  
Hadil Alrohaif ◽  
Walaa Alshuaibi ◽  
Hicham Mansour ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Disease Management ◽  
Best Practice ◽  
Middle Eastern ◽  
Genetic Diagnosis ◽  
Signs And Symptoms ◽  
Best Practice Guidelines ◽  
Related Quality

The timely and accurate genetic diagnosis of Duchenne muscular dystrophy (DMD) enables prompt initiation of disease management and genetic counseling and optimal patient care. Despite the existence of best practice guidelines for the diagnosis of DMD, implementation of these recommendations in different parts of the world is challenging. Here, we present 4 unique case studies which illustrate the different diagnostic pathways of patients with DMD in Middle Eastern countries and highlight region-specific challenges to achieving timely and accurate genetic diagnosis of DMD. A lack of disease awareness and consequential failure to recognize the signs and symptoms of DMD significantly contributed to the delayed diagnoses of these patients. Additional challenges included limited available funding for genetic testing and a lack of local specialist and genetic testing centers, causing patients and their families to travel vast distances for appointments in some countries. Earlier and more accurate genetic diagnosis of DMD in this region would allow patients to benefit from effective disease management, leading to improvements in health-related quality of life.

scholarly journals Pain experience, expression and coping in boys and young men with Duchenne Muscular Dystrophy – A pilot study using mixed methods

2016 ◽  
Vol 20 (4) ◽  
pp. 630-638 ◽  
Author(s):  
Anne Hunt ◽  
Bernie Carter ◽  
Janice Abbott ◽  
Arija Parker ◽  
Stefan Spinty ◽  
...  
Keyword(s):  
Mixed Methods ◽  
Duchenne Muscular Dystrophy ◽  
Pilot Study ◽  
Muscular Dystrophy ◽  
Young Men ◽  
Pain Experience ◽  
And Coping

scholarly journals Is it the right time for an infant screening for Duchenne muscular dystrophy?

2020 ◽  
Vol 41 (7) ◽  
pp. 1677-1683
Author(s):  
Gian Luca Vita ◽  
Giuseppe Vita
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Best Practice ◽  
Screening Programme ◽  
Diagnostic Delay ◽  
Pilot Project ◽  
Small Population ◽  
New Drugs ◽  
Public Health Programme ◽  
Infant Screening

Abstract Newborn screening (NBS) is an essential, preventive public health programme for early identification of disorders whose early treatment can lead to significant reduction in morbidity and mortality. NBS for Duchenne muscular dystrophy (DMD) has been a controversial matter for many years, because of false positives, the lack of effective drugs and the need of more data about screening efficacy. The still high diagnostic delay of DMD and the current availability of drugs such as steroid, ataluren, eteplirsen, golodirsen and forthcoming new drugs, improving the clinical conditions if early started, make appropriate to begin a concrete discussion between stakeholders to identify best practice for DMD screening. A two-step system CK/DNA screening programme is presented to be performed in male infants aged between 6 months and 42 months involving more than 30,000 male infants. Five to eight DMD subjects are believed to be diagnosed. The pilot project would give the opportunity to test in a small population the feasibility of an infant screening programme, which in the near future could be applicable to an entire country.

scholarly journals Experiences of caregivers of boys with Duchenne Muscular Dystrophy

2021 ◽  
Vol 38 (3) ◽  
pp. 221-238
Author(s):  
Ximena Palacios-Espinosa ◽  
Ángela Victoria Vera-Márquez ◽  
Heidi Mateus ◽  
Martha Liliana Dávalos Serrano ◽  
Jennifer Gracia-Ruiz ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Thematic Analysis ◽  
Neuromuscular Disease ◽  
Young Men ◽  
Premature Death ◽  
Phenomenological Approach ◽  
Physical Deterioration ◽  
The Family ◽  
Key Topics

Duchenne muscular dystrophy (DMD) is a neuromuscular disease that leads to progressive and fatal physical deterioration. The progression of this disease requires frequent or permanent care that implies high levels of demand for the caregivers of children who have developed DMD. Certainly, this disease affects diagnosed children and their caregivers as well. The support from the health system is scarce for both, which translates into an intense burden for the mothers and women of the family who care the person diagnosed with DMD during their lifetime. This qualitative study with phenomenological approach aimed to analyze the meaning of the experience of being a caregiver for boys and young men living with DMD in Colombia. After obtaining their informed consent, caregivers were interviewed and a thematic analysis of their narratives was performed to determine three key topics that endow their experiences with meaning: (1) finding out about the disease, (2) living according to the needs of boys and young men, and (3) providing a new meaning to life. The results show that the meaning of DMD is strongly associated with intense suffering and psychological stress, with a high negative burden, especially during the initial years after diagnosis. The study suggests that it is important to assimilate and process these experiences and findings to learn how to live with DMD and identify the certainty of a child’s premature death.

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