Clinical Characteristics of Duchenne Muscular Dystrophy: A Comparison of Patients With Very Prolonged Survival vs Patients Who Had Early Death

CHEST Journal ◽  
2014 ◽  
Vol 146 (4) ◽  
pp. 702A
Author(s):  
Erhan Ararat ◽  
Maroun Mhanna ◽  
David Birnkrant
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Characteristics ◽  
Early Death ◽  
Prolonged Survival

Duchenne muscular dystrophy: A case with prolonged survival

1985 ◽  
Vol 66 (4) ◽  
pp. 260-261 ◽  
Author(s):  
Ernest W. Johnson ◽  
H. Thomas Reynolds ◽  
Donna Stauch
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Prolonged Survival

Genotype of early death due to cardiac failure in duchenne muscular dystrophy

2017 ◽  
Vol 381 ◽  
pp. 823 ◽  
Author(s):  
K. Nakamura ◽  
K. Goto ◽  
T. Ishikawa ◽  
R. Shimazaki ◽  
E. Matsubara
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Cardiac Failure ◽  
Early Death

scholarly journals Descriptive Characteristics of Males with Duchenne Muscular Dystrophy in Those Covered by Government (Medicaid) and Non-government (Private) Health Plans

US Neurology ◽  
2018 ◽  
Vol 14 (2) ◽  
pp. 88
Author(s):  
Oscar Henry Mayer ◽  
John Karafilidis ◽  
Kate Higgins ◽  
Brian Griffin ◽  
◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Characteristics ◽  
International Classification Of Diseases ◽  
Neuromuscular Disorder ◽  
Healthcare Resource Utilization ◽  
Office Visits ◽  
Mechanical Ventilators ◽  
Classification Of Diseases ◽  
Male Patients

Duchenne muscular dystrophy (DMD) is a rare, inherited neuromuscular disorder.Methods:To describe the clinical characteristics and healthcare resource utilization (HCRU) of male patients with DMD in commercial and Medicaid cohorts, this retrospective study identified male patients in the Truven Health MarketScan® Commercial and Medicaid databases diagnosed with hereditary progressive muscular dystrophy (HPMD) presumed to have DMD between 2011–2014. Patients with ≥2 medical claims with a diagnosis for HPMD (International Classification of Diseases, 9th revision, ClinicalModification:359.1) were included. Patients were followed for 12 months after diagnosis date, during which clinical characteristics and HCRU were assessed.Results:In total, 2,285 patients met the selection criteria. In these patients, corticosteroid and anti-infective agents were commonly utilized. Physician office visits were extremely common, with over 70% of all patients having at least one visit. Wheelchairs were commonly used, with the incidence of use increasing with age. Mechanical ventilators and airway clearance devices were underrepresented in the data.Conclusion:Patients with DMD had higher annual HCRU costs when compared with a non-DMD age-matched cohort, with patients in commercial cohorts having a higher annual average cost than those in Medicaid cohorts.

scholarly journals Prolonged Survival and End-of-Life Care Among End-Stage Patients With Duchenne Muscular Dystrophy (DMD)

CHEST Journal ◽  
2011 ◽  
Vol 140 (4) ◽  
pp. 1054A
Author(s):  
Jennifer Birnkrant ◽  
David Bennett ◽  
Garey Noritz ◽  
Michael Harrington ◽  
David Birnkrant
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
End Of Life ◽  
End Of Life Care ◽  
Prolonged Survival ◽  
Life Care ◽  
End Stage

P1.7 Early death following minor trauma in Duchenne muscular dystrophy

2011 ◽  
Vol 21 (9-10) ◽  
pp. 643
Author(s):  
L.C. McAdam ◽  
K. Macleod ◽  
J. Vajsar ◽  
W.D. Biggar ◽  
A. Rastogi
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Early Death ◽  
Minor Trauma

scholarly journals Exercise exacerbates decline in the musculature of an animal model of Duchenne muscular dystrophy

2018 ◽  
Author(s):  
KJ Hughes ◽  
A Rodriguez ◽  
A Schuler ◽  
B Rodemoyer ◽  
L Barickman ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Early Onset ◽  
Genetic Disorder ◽  
Treatment Strategies ◽  
Early Death ◽  
Initial Assessment ◽  
Calcium Dysregulation ◽  
C Elegans ◽  
Muscle Necrosis

ABSTRACTDuchenne muscular dystrophy (DMD) is a genetic disorder caused by loss of the protein dystrophin. In humans, DMD has early onset, causes developmental delays, muscle necrosis, loss of ambulation, and early death. Current animal models have been challenged by their inability to model the early onset and severity of the disease. Thus it remains unresolved if increased sarcoplasmic calcium observed in dystrophic muscles follows or leads the mechanical insults caused by the muscle’s disrupted contractile machinery. This knowledge has important applications for patients, as potential physiotherapeutic treatments may either help or exacerbate symptoms, depending on how dystrophic muscles differ from healthy ones. Recently we showed how burrowing dystrophic (dys-1)C. elegansrecapitulate many salient phenotypes of DMD, including loss of mobility and muscle necrosis. Here we reportdys-1worms display early pathogenesis, including dysregulated sarcoplasmic calcium, and increased lethality. Sarcoplasmic calcium dysregulation indys-1worms precedes overt structural phenotypes (e.g. mitochondrial, and contractile machinery damage) and can be mitigated by silencing calmodulin expression. To learn how dystrophic musculature responds to altered physical activity, we cultivateddys-1animals in environments requiring high amplitude, or high frequency of muscle exertion during locomotion. We find that several muscular parameters (such as size) improve with increased activity. However, longevity in dystrophic animals was negatively associated with muscular exertion, regardless of the duration of the effort. The high degree of phenotypic conservation between dystrophic worms and humans provides a unique opportunity to gain insights into the etiology of the disease, as well as the initial assessment of potential treatment strategies.SIGNIFICANCEDuchenne muscular dystrophy is a degenerative disease affecting tens of thousands of people in the US alone. Much remains unknown about the disease, including the chain of events that links the loss of dystrophin to muscle death, or the extent to which exercise might be able to protect degenerating muscles. We used the nematodeC. elegansto show that sarcoplasmic calcium dysregulation takes place in dystrophic muscles long before other overt signs of damage manifest. When placed in assays that altered muscular activity by increasing either contraction frequency or amplitude, we observed several metrics associated with muscular repair increase. However, no treatment positively affected the life expectancy of dystrophic animals.

scholarly journals A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Kate Williams ◽  
Ian Davidson ◽  
Mark Rance ◽  
Katharina Buesch ◽  
Sarah Acaster
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Social Life ◽  
Positive Impact ◽  
Qualitative Interviews ◽  
Early Death ◽  
Neuromuscular Disorder ◽  
The Uk ◽  
The Impact

Abstract Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy, as well as the impact of treatment with ataluren on the caregiver experience, using retrospective recall. Methods Qualitative interviews were conducted with caregivers in the UK. Interviews were conducted by telephone, were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded. Results Ten interviews were conducted with parents of individuals aged 4–19 years. Caregivers reported proximal impacts (physical, emotional, time-related), and distal impacts (work, relationships, social life) of caring for their sons. The relationships between these impacts were illustrated in a conceptual model. Changes to the caregiver experience since initiation with their son’s treatment were discussed. Conclusion Caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy has a substantial multifaceted impact on caregivers. Treatments which have the potential to improve symptoms or delay progression, may also have a positive impact on the quality of life of caregivers.

scholarly journals Transition from Childhood to Adulthood in Patients with Duchenne Muscular Dystrophy

Medicina ◽  
2020 ◽  
Vol 56 (9) ◽  
pp. 426
Author(s):  
Eliza Wasilewska ◽  
Sylwia Małgorzewicz ◽  
Agnieszka Sobierajska-Rek ◽  
Joanna Jabłońska-Brudło ◽  
Lucyna Górska ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Course ◽  
Early Death ◽  
Comprehensive Overview ◽  
Healthcare Needs ◽  
Effective Care ◽  
Gastrointestinal Problems ◽  
Adolescents And Adults

Recently, progress has been observed in the knowledge about Duchenne Muscular Dystrophy (DMD), which is a severe and commonly diagnosed genetic myopathy in childhood, historically resulting in early death. Currently, there are a lot of methods available to improve the clinical course of DMD and extend patients’ life expectancy to more than 30 years of age. The key issue for DMD patients is the period between 16–18 years of age, which is described as a transition from pediatric- to adult-oriented healthcare. Adolescents and adults with DMD have highly complex healthcare needs associated with long-term steroid usage, orthopedic, ventilation, cardiac, and gastrointestinal problems. The current paper provides a comprehensive overview of special healthcare needs related to the transfer of a patient with DMD from child-oriented to adult-oriented care. Additionally, the need to organize effective care for adults with DMD is presented.

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