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.
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-DystrophyThe 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.
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-12, NP031112) is a potent, selective and irreversible[1] small molecule non-ATP-competitive glycogen synthase kinase 3 (GSK-3) inhibitor.
Tideglusib is under investigation for multiple applications:
This is a fairly scientific study of using the CRISPER Technology to help find a treatment for myotonic dystrophy. DM1 is caused by expanded CTG repeats in the 30 UTR. It is conceivable that simply deleting the expanded CTG repeats may cure the disease. With the advancement of therapeutic genome-editing technologies, this is becoming more realistic.
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