Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 – June 27, 2019

2020 ◽  
pp. 1-8
Author(s):  
Susan Apkon ◽  
Kathi Kinnett ◽  
Linda Cripe ◽  
Dongsheng Duan ◽  
Jamie L. Jackson ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Parent Project

scholarly journals Proceedings of a Parent Project Muscular Dystrophy Bone Health Workshop

2018 ◽  
Vol 28 (1) ◽  
pp. 64-76 ◽  
Author(s):  
Leanne M. Ward ◽  
Kathi Kinnett ◽  
Lynda Bonewald ◽  
Jonathan D. Adachi ◽  
Laura Bachrach ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Bone Health ◽  
Parent Project

scholarly journals Current state of cardiac troponin testing in Duchenne muscular dystrophy cardiomyopathy: review and recommendations from the Parent Project Muscular Dystrophy expert panel

Open Heart ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. e001592
Author(s):  
Christopher F Spurney ◽  
Deborah Ascheim ◽  
Lawrence Charnas ◽  
Linda Cripe ◽  
Kan Hor ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Cardiac Disease ◽  
Cardiac Troponin ◽  
Troponin I ◽  
Expert Panel ◽  
High Sensitivity ◽  
Parent Project ◽  
Silver Spring ◽  
Prospective Longitudinal

Cardiac disease is now the leading cause of death in Duchenne muscular dystrophy (DMD). Clinical evaluations over time have demonstrated asymptomatic cardiac troponin elevations and acute elevations are associated with symptoms and cardiac dysfunction in DMD. Clinicians require a better understanding of the relationship of symptoms, troponin levels and progression of cardiac disease in DMD. As clinical trials begin to assess novel cardiac therapeutics in DMD, troponin levels in DMD are important for safety monitoring and outcome measures. The Parent Project Muscular Dystrophy convened an expert panel of cardiologists, scientists, and regulatory and industry specialists on 16 December 2019 in Silver Spring, Maryland and reviewed published and unpublished data from their institutions. The panel recommended retrospective troponin data analyses, prospective longitudinal troponin collection using high-sensitivity cardiac troponin I assays, inclusion of troponin in future clinical trial outcomes and future development of clinical guidelines for monitoring and treating troponin elevations in DMD.

Electron Microscopy of Fibroblasts from Myotonic Muscular Dystrophy Patients

1981 ◽  
Vol 39 ◽  
pp. 498-499
Author(s):  
S. E. Miller ◽  
G. B. Hartwig ◽  
R. A. Nielsen ◽  
A. P. Frost ◽  
A. D. Roses
Keyword(s):  
Electron Microscopy ◽  
Muscular Dystrophy ◽  
Genetic Diseases ◽  
Skin Fibroblasts ◽  
Inborn Errors ◽  
Cytoplasmic Inclusions ◽  
Cultured Skin ◽  
Myotonic Muscular Dystrophy ◽  
Glycosaminoglycan Metabolism

Many genetic diseases can be demonstrated in skin cells cultured in vitro from patients with inborn errors of metabolism. Since myotonic muscular dystrophy (MMD) affects many organs other than muscle, it seems likely that this defect also might be expressed in fibroblasts. Detection of an alteration in cultured skin fibroblasts from patients would provide a valuable tool in the study of the disease as it would present a readily accessible and controllable system for examination. Furthermore, fibroblast expression would allow diagnosis of fetal and presumptomatic cases. An unusual staining pattern of MMD cultured skin fibroblasts as seen by light microscopy, namely, an increase in alcianophilia and metachromasia, has been reported; both these techniques suggest an altered glycosaminoglycan metabolism An altered growth pattern has also been described. One reference on cultured skin fibroblasts from a different dystrophy (Duchenne Muscular Dystrophy) reports increased cytoplasmic inclusions seen by electron microscopy. Also, ultrastructural alterations have been reported in muscle and thalamus biopsies from MMD patients, but no electron microscopical data is available on MMD cultured skin fibroblasts.

Regenerating myofibers in tibialis anterior muscles of young ‘MDX’ mice

1987 ◽  
Vol 45 ◽  
pp. 726-727
Author(s):  
H. D. Geissinge ◽  
L.D. Rhodes
Keyword(s):  
Muscular Dystrophy ◽  
Mouse Model ◽  
Tibialis Anterior ◽  
Physiological Activity ◽  
Mdx Mice ◽  
Mode Of Inheritance

A recently discovered mouse model (‘mdx’) for muscular dystrophy in man may be of considerable interest, since the disease in ‘mdx’ mice is inherited by the same mode of inheritance (X-linked) as the human Duchenne (DMD) muscular dystrophy. Unlike DMD, which results in a situation in which the continual muscle destruction cannot keep up with abortive regenerative attempts of the musculature, and the sufferers of the disease die early, the disease in ‘mdx’ mice appears to be transient, and the mice do not die as a result of it. In fact, it has been reported that the severely damaged Tibialis anterior (TA) muscles of ‘mdx’ mice seem to display exceptionally good regenerative powers at 4-6 weeks, so much so, that these muscles are able to regenerate spontaneously up to their previous levels of physiological activity.

The effect of exercise in muscular dystrophy

JAMA ◽  
1966 ◽  
Vol 197 (11) ◽  
pp. 843-848 ◽  
Author(s):  
P. J. Vignos
Keyword(s):  
Muscular Dystrophy

Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy

2001 ◽  
Vol 21 (1) ◽  
pp. 45-52 ◽  
Author(s):  
Ralf Schober ◽  
Wolfram Kress ◽  
Friedrich Grahmann ◽  
Steffen Kellermann ◽  
Petra Baum ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Triplet Expansion
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