Smell Function (Odor recognition) may be affected by Myotonic Dystrophy

Impaired smell found

A new study that looked at MRI images showed that there were some affects to smell that could be seen on patients MRI. It is very possible that some people affected with DM may have reduced or impaired Smell (odor responses). The study is in Japanese so this is all the information that we can report here.

[Impairment of Odor Recognition in Myotonic Dystrophy Type 1].

[Article in Japanese]


There is evidence that impaired human cognitive abilities are reflected in loss of olfactory abilities. Declining olfactory perception may be a biomarker for impairment of cognitive function and of impending illnesses in neurodegenerative disorders such as Parkinson’s disease (PD) and Alzheimer’s disease (AD). Previously, we reported that patients with myotonic dystrophy type 1 (DM 1) had lower sensitivity to emotional facial expressions as well as abnormal olfactory threshold or recognition level. In DM 1, pathological studies have reported neurofibrillary tangles in several temporal areas including the entorhinal cortex (ENT), hippocampus (HI), and the amygdala. We observed that patients with DM 1 showed signal abnormalities in the olfactory limbic areas on magnetic resonance imaging. Our findings underscore the need to pay careful attention to significant decreases in odor identification abilities caused by diverse forms of abnormal brain function, especially in the AMG, ENT and HI.

Common Antibiotic Might Help Treat Myotonic Dystrophy Type 1 – Promising Therapy


In a study published in December 2015 in a peer review journal researchers from Japan and Poland found that a commonly used antibiotic might assist in the treatment of Myotonic Dystrophy. This is a sort of interesting  discovery as there is no treatment identified to treat the disease. Treatment now consists of reducing symptoms. There are several other approaches that are in development maybe as soon as the end of this year. Here is a link to another promising therapy as well Cagumycin

The researchers first began by screening antibiotics. In a screen of 20 antibiotics 2-3 were found to have some potential with the disease.When screening the drugs they first used mice cells and lab equipment to find the most promising compounds (drugs). . Erythromyicin was found to have the highest attraction to the RNA CUG expansion (The opposite of CTG repeats in the DNA) Erythromycin was the drug that the researchers chose to study. Click here for the screening graph Muscleblind and Various antibiotics and compounds

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Wonderful Conference in San Fransisco

The conference in San Fransisco was awesome. Loved every minute of it. Met some wonderful people. I got to the conference on the Thurs night. It was an awesome night. Saw Molly white the new executive director she and Amy were running ragged trying to keep everything together. Had a chance to talk with a number of families that night you had come across country for the conference.

Unfortunately I came down sick that night. maybe some food I should not have eaten. I went to an Afghan Restaurant and maybe that did it. Anyway I was able to come and see the first session Cardiac issues which was a lot of fun and very informative.The next session was DM Care and the Advocate’s Role, Dr. Cynthia Gagnon. This was an excellent presentation. She at the end went over the importance of a nurse advocate in working with DM patients. Cynthia is from Canada and they have many resources available in Quebec to help. They are working on the new checklist for management of myotonic dystrophy which is part of an international consortium. Some thoughts here:

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How do I know if I have Myotonic dystrophy

How do I know if I or someone I know has Myotonic Dystrophy?

First you can scan the pages and see if your symptoms match those of people with Myotonic Dystrophy. Some of the symptoms are: A quick visual test is the grip test: Look at these pictures and then try to open and close your hand very rapidly. This are large visual files so may take a minute to open! Use your back button on the browser when done.

Polyhydraminos (Excess amniotic fluid during pregnancy)
Ulcerative Colitis (abdominal pains)
Muscle Pains
Hair Loss
Apathy/Lack of Motivation
Difficulty in swallowing and chewing
Abnormal ECG
Weakness in muscles, Hand, Ankle, Shoulder
Inability to rapidly open and close hand
Hypersomnia (Excessive sleeping)


Grip Test   
                 Characteristic Release

DNA Testing

If this still indicates that you may have myotonic Dystrophy you can visit your local Muscular Dystrophy Association if you live in the Untied States. They will arrange for a DNA blood test. The testing measures the number of CTG repeats on Chromosome 19 for DM1 and the number of Repeats on Chromosome 3 for DM2.  There is a foundation that may help with funding for testing. Contact us for more information.

There is also private companies that will do testing. You can send a blood sample to these testing labs and they will analyze the blood for you and send a report. Athena Diagnostics performs testing on both Type 1 and Type 2 Myotonic Dystrophy, DM1 and DM2. The fees for testing are between US$250 and US$350 per test.

Athena Diagnostics
Four Biotech Park
377 Plantation Street
Wochester, MA 01605
508/756-2886 Phone
508-753-5601 FAX

Baylor College of Medicine
Medical Genetics Laboratories
One Baylor Plaza
Houston, TX 77030

The normal number of repeats will be up to 5-38. Over this amount indicates that the disease may be present. The number of repeats can be in the thousands for the congenital form. You need to discuss this information with your doctor, the best would be with a neurologist at the Muscular dystrophy clinic in the USA or a Neurologist.

If the test show that an individuals has Dm then  make sure that all affected individuals carries an alert card. Emergency Medical personnel need to know if the person has DM. Click here to get an alert card. You can write our office for a plastic card to be carried in the wallet or purse.

What to bring to the Medical Office for 1st appointment

For your first appointment you might want to bring a medical history of any family members that might be affected. It will also help to print out the guidelines and Care recommendations from the Scottish Medical Society. Click here to access the Medical Guidelines and Care Recommendations.