Lecture on consensus based care for patients with myotonic dystrophy

On May 10th 2019 at the American Academy for Neurology a talk on consensus based care for Myotonic Dystrophy Type 1 will b given at 10am. Dr, Johnson has considerable experience with this disease.

Nicholas E. Johnson, MD, FAAN, is an assistant professor of neurology, pediatrics, and pathology at the University of Utah with a focus in inherited neuromuscular disorders. He received his undergraduate degree in molecular and cellular biology and psychology at the University of Arizona. He then obtained his medical degree at the University of Arizona. He completed his neurology residency and combined fellowship in neuromuscular medicine and experimental therapeutics at the University of Rochester.

His laboratory is focused on identifying the pathogenesis of myotonic dystrophy and facioscapulohumeral muscular dystrophy and identifying appropriate clinical endpoints for these conditions. Johnson conducts therapeutic trials in many other inherited nerve and muscle disorders. He also serves as deputy editor of Neurology® Genetics.

Johnson serves as chair of the Government Relations Committee for the American Academy of Neurology. He is also a member of the American Academy of Neurology’s delegation to the American Medical Association. In these roles, Johnson advocates for improving the practice of neurology for neurologists and their patients.

Here is a link to the information on the talk http://tools.aan.com/annualmeeting/search/index.cfm?fuseaction=home.detail&id=7616&keyword=&81,81,81,81,81,81,81,81,81,81,81,81,81&type=all.

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Genetic Testing best practices for Myotonic Dystrophy Patients

Because of the disease characteristics in DM1 and DM2, appropriate molecular testing and reporting is very important for the optimal counseling in myotonic dystrophy. Here, we describe best practice guidelinesfor clinical molecular genetic analysis and reporting in DM1 and DM2, including presymptomatic and prenatal testing.

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Maximum Voluntary Ventilation can help predict lung issues in Myotonic Dystrophy patients

A new study of myotonic dystrophy patients indicates that an older style test of maximum voluntary ventilation may help Myotonic Dystrophy patients know their lung function better. 

The maximal voluntary ventilation (MVV) is another measure of the neuromuscular and respiratory systems. The MVV is the total volume of air exhaled during 12 sec of rapid, deep breathing, which can be compared with a predicted MVV defined as the forced expiratory volume in 1 sec (FEV1× 35 or 40. A significant difference between the predicted and measured MVV may indicate insufficient neuromuscular reserve, abnormal respiratory mechanics, or an inadequate effort. Progressive reduction of tidal volumes during the test is consistent with neuromuscular abnormalities but also occurs with gas trapping as a result of disorders that cause airflow limitation.

Clinical_implication_of_maximal_voluntary.-ventilation-in-Myotonic-Dystrophy

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Care Recommendations for Myotonic Dystrophy Type 2

The MDF recruited 15 international clinicians with long-standing experience in the care of DM2 patients to develop consensus-based care recommendations. The single text procedure was adopted. This process generated a 4-page Quick Reference Guide and a comprehensive 55-page document that provides care recommendations for DM2 patients.


Summary
The resulting recommendations will help standardize and improve care for DM2 patients and facilitate appropriate management in centers without neuromuscular specialists.

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New drug, Tideglusib, approach moving to clinical trial shortly

There is a new compound that is being tested to see if it can help with congenital myotonic dystrophy. It is being tested for a number of applications including tooth repair and Alzheimer’s  and just might help with the congenital form of myotonic dsytrophy. this is a molecule being developed by AMO pharma.

Tideglusib (NP-12NP031112) is a potent, selective and irreversible[1] small molecule non-ATP-competitive glycogen synthase kinase 3 (GSK-3) inhibitor.

Potential applications[edit]

Tideglusib is under investigation for multiple applications:

  • Alzheimer’s disease and progressive supranuclear palsy. As of 2017 it was undergoing Phase IIa[2] and IIb clinical trials.[3][4][5][6] The first trial to be published (in English) was Phase IIand demonstrated that tideglusib was well tolerated, except for some moderate, asymptomatic, fully reversible increases in liver enzymes.[4]
  • Tooth repair mechanisms that promotes dentine reinforcement of a sponge structure until the sponge biodegrades, leaving a solid dentine structure. In 2016, the results of animal studies were reported in which 0.14 mm holes in mouse teeth were permanently filled.[7]
  • Tideglusib is being studied in Phase II clinical trials as a treatment for congenital/juvenile-onset myotonic muscular dystrophy type I.[8]

There is a clinical study that will be starting shortly and you might be able to participate when this trial opens. Click here for more information.

https://clinicaltrials.gov/ct2/show/NCT03692312?cond=Myotonic+Dystrophy%2C+Congenital&rank=1

Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy

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