Phenylbutazone & NSAIDS – Another potential treatment(s) for Myotonic Dystrophy

Orudis KT

Another paper has been published and revealed another potential treatment for myotonic dystrophy, Phenylbutazone PBZ.. Interestingly this study was also done in Japan………… now a hotbed of repositioning drugs for treatment of myotonic dystrophy.   some info from the study

“Using the drug repositioning strategy, we found that PBZ markedly elevated MBNL1 expression in myogenic cells(Fig. 1 and Supplementary Fig. S1) as well as in skeletal muscles in HSALR mice model (Fig. 2 and Supplementary Fig. S2). PBZ mitigated muscle pathology (Fig. 2d,e) and improved the running wheel activity and grip strength
in HSALR mice (Fig. 2c and Supplementary Fig. S2d).”

This summary above  showed that in mice this drug helped mice with myotonic dystrophy run on the wheel better and had better grip strength. More info below

PBZ is an NSAID with anti-inflammatory, antipyretic, and analgesic activities. PBZ was approved in humans for rheumatoid arthritis and gout in 1949. Although incidental adverse effects of fatal liver disease and aplastic anemia markedly lowered the use of PBZ, PBZ is still used as an alternative drug for ankylosing spondylitis32,33.
Interestingly, another NSAID, ketoprofen has been reported to suppress CUG-induced lethality in Drosophila34, and we also found that 50 μ M ketoprofen upregulated the expression of Mbnl1 mRNA 1.2-fold in C2C12 cells, which was lower than the 1.3-fold increase of Mbnl1 mRNA by 50 μ M PBZ (Supplementary Fig. S6). Ketoprofen
and some other NSAIDs may have beneficial effects on a mouse model of DM1, as well as on DM1 patients.

Editors Note: This drug (PBZ) approval was removed for humans in 2003 in the USA and Canada. It is available for use in animals only. The drug Ketoprofen was not studied in depth but is an approved NSAZID drug in the USA. We have choosen the image of Ketoprofen as this is an approved drug in the USA.

Full study is Here.. Phenylbutazone Treatment DM1 mice

June 7th Myotonc Dystrophy Conference in the UK

The MDSG is holding an excellent conference in Nottingham England on the June 7th

This is an excellent conference. Its difficult to get to. When I went last here we had to fly in and then take a bus and cab to Nottingham. Its a delight if you can get there with good friends and companionship.

Each year (usually in April,May or June) the Group hosts a full day conference at a regional venue. Specialist speakers covering a wide selection of topics affecting Myotonic Dystrophy are invited. Workshops covering a number of related issues are also provided.

2014 Conference will be held at :

East Midlands Conference Centre & Orchard Hotel,

University Park, The University of Nottingham,

Nottinghamshire,NG7 2RJ

Sat Nav:Lat: 52.940983 Long: -1.208081

Telephone: 0871 222 4836

On Saturday the 7th of June 2014.

 

Each year (usually in April,May or June) the Group hosts a full day conference at a regional venue. Specialist speakers covering a wide selection of topics affecting Myotonic Dystrophy are invited. Workshops covering a number of related issues are also provided.

2014 Conference will be held at :

East Midlands Conference Centre & Orchard Hotel,

University Park, The University of Nottingham,

Conferences.

Each year (usually in April,May or June) the Group hosts a full day conference at a regional venue. Specialist speakers covering a wide selection of topics affecting Myotonic Dystrophy are invited. Workshops covering a number of related issues are also provided.

2014 Conference will be held at :

East Midlands Conference Centre & Orchard Hotel,

University Park, The University of Nottingham,

Nottinghamshire,NG7 2RJ

Sat Nav:Lat: 52.940983 Long: -1.208081

Telephone: 0871 222 4836

On Saturday the 7th of June 2014.

,NG7 2RJ

Sat Nav:Lat: 52.940983 Long: -1.208081

Telephone: 0871 222 4836

On Saturday the 7th of June 2014.

The Quadruplet Whammy – Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy is what I Describe as the Quadruple Whammy. It hits you hard and just keeps hitting you some more. Sometimes more and sometimes less but it just keeps kicking. Having now dealt with this disease for over 23 years I wonder often why its so so hard sometimes…………Here’s Why

1. Congenital Myotonic Dystrophy. Its present at birth and causes all kinds of issues like respiratory distress, ventilators, premature birth, feeding and swallowing issues, floppiness, etc. And of course it causes developmental delay Okay, so you get hit hard swallow the dreams make up some new ones. maybe its not so bad……… That’s Whammy One

2. In the course of the disease,  many of the kids will develop symptoms of juvenile Myotonic Dystrophy such as autism spectrum disorder,  ADHD, speech issues, socialization issues. Oh boy, now more adjustments throw dream two away…. Make up a new one that fits better. Handle all the issues everyday…..Whammy Two

3. At or near puberty the kids will begin to develop the symptoms of standard myotonic dystrophy such as Cardiac conduction problems, myotonia, muscle weakness in head and legs and arms. Here stuff really happens, serious medical issues again. Chance of sudden death from cardiac failure. Chance of death from pneumonia. Throw out all the dreams and live day to day. . Whammy three.

4. Of course in the midst of all of this the mother has the disease and it is slowly progressive and others in the family have this as well. Many of the moms become involved with symptoms….. to where they can not adequately take care of their baby/child/adult. Whammy four.

Quadruple Whammy! Now the good news is that Isis Pharmaceuticals (Carlsbad, CA)  is working on a drug that will help many of the symptoms of the disease. Only 5-6 years away if all goes well. That will take care of all the whammy’s!!

Richard

Myotonic Dystrophy found to be cause of 9.7% of unknown Polyhydraminos

Excess amniotic fluid that surrounds the baby is one clue in diagnosis of myotonic dystrophy. This causes preterm labor and potential severe issues in the children. This study looks at cases of unknown polyhydramnois and concluded that 9.7% of this population that was studied had DM

Am J Obstet Gynecol. 1998 Oct;179(4):974-7.

Myotonic dystrophy is a significant cause of idiopathic polyhydramnios.

Source

Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City 84132, USA.