Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

2015 ◽  
Vol 25 (6) ◽  
pp. 530
Author(s):  
C.A. Sewry
Keyword(s):  
Muscular Dystrophy ◽  
Disease Severity ◽  
Becker Muscular Dystrophy ◽  
Associated Proteins

Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

2015 ◽  
Vol 25 (3) ◽  
pp. 231-237 ◽  
Author(s):  
J.C. van den Bergen ◽  
B.H.A. Wokke ◽  
M.A. Hulsker ◽  
J.J.G.M. Verschuuren ◽  
A.M. Aartsma-Rus
Keyword(s):  
Muscular Dystrophy ◽  
Disease Severity ◽  
Becker Muscular Dystrophy ◽  
Associated Proteins

scholarly journals Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

2010 ◽  
Vol 1 (1) ◽  
pp. 8 ◽  
Author(s):  
Melinda F. Davis ◽  
Katalin H. Scherer ◽  
Timothy M. Miller ◽  
F. John Meaney
Keyword(s):  
Muscular Dystrophy ◽  
Medical History ◽  
Disease Progression ◽  
Disease Severity ◽  
Rating Scale ◽  
Becker Muscular Dystrophy ◽  
Assisted Ventilation ◽  
Structured Interviews ◽  
Course Of Disease ◽  
Outcome Indicators

Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI:10.2458/azu_jmmss_v1i1_davis

scholarly journals Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

2011 ◽  
Vol 1 (2) ◽  
Author(s):  
Melinda F. Davis ◽  
Katalin H. Scherer ◽  
Timothy M. Miller ◽  
F. John Meaney
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Muscular Dystrophy ◽  
Disease Severity ◽  
Muscle Weakness ◽  
Respiratory Function ◽  
Rating Scale ◽  
Becker Muscular Dystrophy ◽  
Progressive Muscle Weakness ◽  
Lateral Sclerosis ◽  
Disease Specific

Reports an error in Davis et al. (2010).  The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997).  Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness.  This error does not change the conclusions. DOI:10.2458/azu_jmmss_v1i2_davis

scholarly journals Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

2010 ◽  
Vol 1 (1) ◽  
pp. 8
Author(s):  
Melinda F. Davis ◽  
Katalin H. Scherer ◽  
Timothy M. Miller ◽  
F. John Meaney
Keyword(s):  
Muscular Dystrophy ◽  
Medical History ◽  
Disease Progression ◽  
Disease Severity ◽  
Rating Scale ◽  
Becker Muscular Dystrophy ◽  
Assisted Ventilation ◽  
Structured Interviews ◽  
Course Of Disease ◽  
Outcome Indicators

Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI:10.2458/azu_jmmss_v1i1_davis

Role of dystrophin isoforms and associated proteins in muscular dystrophy (review).

1998 ◽  
Author(s):  
K G Culligan ◽  
A J Mackey ◽  
D M Finn ◽  
P B Maguire ◽  
K Ohlendieck
Keyword(s):  
Muscular Dystrophy ◽  
Associated Proteins

scholarly journals Cardiac involvement in Becker muscular dystrophy: role of cardiovascular magnetic resonance

2013 ◽  
Vol 14 (11) ◽  
pp. 1038-1038 ◽  
Author(s):  
Rafael Vidal-Pérez ◽  
José Diaz-Villanueva ◽  
Monika Arzanauskaite ◽  
Ricardo Rojas ◽  
Francesc Carreras
Keyword(s):  
Cardiovascular Magnetic Resonance ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Cardiac Involvement ◽  
Becker Muscular Dystrophy

scholarly journals Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

2010 ◽  
Vol 1 (1) ◽  
pp. 8
Author(s):  
Melinda F. Davis ◽  
Katalin H. Scherer ◽  
Timothy M. Miller ◽  
F. John Meaney
Keyword(s):  
Muscular Dystrophy ◽  
Medical History ◽  
Disease Progression ◽  
Disease Severity ◽  
Rating Scale ◽  
Becker Muscular Dystrophy ◽  
Assisted Ventilation ◽  
Structured Interviews ◽  
Course Of Disease ◽  
Outcome Indicators

Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI:10.2458/azu_jmmss_v1i1_davis

scholarly journals Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

2010 ◽  
Vol 1 (1) ◽  
pp. 8 ◽  
Author(s):  
Melinda F. Davis ◽  
Katalin H. Scherer ◽  
Timothy M. Miller ◽  
F. John Meaney
Keyword(s):  
Muscular Dystrophy ◽  
Medical History ◽  
Disease Progression ◽  
Disease Severity ◽  
Rating Scale ◽  
Becker Muscular Dystrophy ◽  
Assisted Ventilation ◽  
Structured Interviews ◽  
Course Of Disease ◽  
Outcome Indicators

Medical investigations use a wide variety of outcome indicators that are often not comparable. It can be challenging to integrate results across multiple studies that do not share a common metric. Some conditions such as Duchenne and Becker muscular dystrophy have a predictable course of disease progression. Severity can be inferred from a patient's medical history. This paper describes the development of a disease severity measure using common markers of disease progression. Rasch modeling was used to estimate severity using dichotomous events that indicate disease progression. Caregivers of 34 young men with Duchenne or Becker muscular dystrophy completed structured interviews about their care and medical history. Interview questions included surgeries (tendon release, scoliosis, tracheostomy), respiratory equipment (assisted ventilation, cough assist devices), and the use of other medical equipment (e.g., braces, walkers, wheelchairs, transfer boards, hospital beds). The resulting measure had a reliability of .83. The correlation between the severity measure and the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS) was .68. Preliminary results and item calibrations are provided for the severity measure that can be estimated from caregiver reports or administrative data. DOI:10.2458/azu_jmmss_v1i1_davis

scholarly journals Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

2011 ◽  
Vol 1 (2) ◽  
Author(s):  
Melinda F. Davis ◽  
Katalin H. Scherer ◽  
Timothy M. Miller ◽  
F. John Meaney
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Muscular Dystrophy ◽  
Disease Severity ◽  
Muscle Weakness ◽  
Respiratory Function ◽  
Rating Scale ◽  
Becker Muscular Dystrophy ◽  
Progressive Muscle Weakness ◽  
Lateral Sclerosis ◽  
Disease Specific

Reports an error in Davis et al. (2010).  The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997).  Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness.  This error does not change the conclusions. DOI:10.2458/azu_jmmss_v1i2_davis

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