Study of Childhood and Congenital Myotonic Dystrophy

Here is a recent study of issues with congenital and childhood myotonic dystrophy. It seems pretty comprehensive and has a lot of good information. The summary is below followed by the link to the full study. The study does not also provide information on the link to autism or autism spectrum disorders that many of the children have. The study does not go into depth on the adult form of the disease that follows as the children age and go through puberty. But a good basic review.

“In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognized yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counseling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation,as is assisting with family planning and undertakingcascade testing to instigate health surveillance in affected family members.”

BELOW click on hyperlink for full study in PDF form.

Childhood Myotonic dystrophy 2015

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Watch your Weight!!! – It may affect your breathing!

 

A recently published article has great information about weight and breathing. Simple conclusion: is that being overweight with Myotonic Dystrophy can affect your breathing and respiratory function. Since respiratory failure and pneumonia are big issue with Myotonic Dystrophy pay special attention to your weight!!! It also showed that a great majority of people with DM have an abnormal body composition. ITs important to keep the weight off but you also must see a nutritionist to insure that you are getting proper nutrition and to look at your body weight/mass/BMI. Here is the summary

InDM1 patients, overweight is an independent factor for predicting TLC, and contributes independently of FIV1. Because overweight isr elated to increased work of breathing and inspiratory muscle strength is reduced inDM1, the fatigue threshold will be reached sooner. Therefore, muscle fatigue and the onset of respiratory failure will develop at an earlier stage in overweight patients, especially during increased ventilator demand. Moreover, over half of DM1patients are overweight, and nearly all patients have an abnormal body composition. To develop interventional strategies for weight loss, it will be important to categorize the individual type of body composition. Hence, preventing the development of overweight inDM1 patients may result in delaying respiratory failure and mortality in DM1.

Click below on the link for the full study

Overweight Myotonic Dystrophy

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New Book about a Family with Myotonic Dystrophy

There are not many books about myotonic dystrophy. There is a fictional series about a skater that has myotonic dystrophy. I wrote a short book about the hopes and aspirations of my son “The boy who was President”. Now comes a great biography about a family with Myotonic Dystrophy. A must read for all with the disease. Here’s a short introduction:

As a young girl, my constant goal was to help my brother, Dustin, walk. Dustin’s limits were hard to gauge because he constantly surpassed expectations. He was born with congenital myotonic dystrophy and expected to die, then to live three months, then three years. Instead, he gained strength and capabilities until age 13, when he had a simple cold and just did not wake up from his nap. His body became too much for the largest muscle in his body, his heart.

While Dustin was alive, I threw quarters in wells, prayed every night, and practiced with him every day after he had surgery and got corrective braces. I would stretch my brother’s legs, rotate his ankles, do resistance exercises and help him practice standing. At age 12, I thought willpower was so strong that, through perseverance and dedication, I could will my brother to walk.

Three years older than my brother, I grew up doing adult caretaking tasks. Through the years, I would change thousands of diapers, brush Dustin’s teeth, lift him into bed, administer nebulizer treatments, clean his feeding tube, watch him when both my parents had to work, bathe him, unload his wheelchair from the bus and play with him. Most things I did for my brother were helpful, but with my conceptions about willpower and Dustin walking, I pushed my brother past his comfort level more than once and caused more pain than progress. For me, a healthy sibling, willpower was a tool to push past obstacles. However, the same view I took of my young healthy body proved detrimental to my brother’s and caused him pain.

Continue reading

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News from 1966 – Mental Retardation and Myotonic Dystrophy

A recent republished article appeared in Pediatrics. Dr. Calderon described 6 cases of Congential Myotonic Dystrophy that had global delay. He also complied 55 cases 53 or which had global developmental delay. The diagnosis were by muscle biopsy then no DNA tests were available. The information urged using this as a differential diagnosis.

Below is the PDF of the article

Mental Retardation and Myotonic Dystrophy 1966

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Males are worse off in Myotonic Dystrophy

A new study shows that males seem to be worse off on a number of factors when they have myotonic dystrophy. Social economic ($$$$) money issues as well as from a health standpoint they do not do as well as females. The full study can be seen here Gender and Myotonic Dystrophy

 

SUMMARY

Our study revealed the multidimensional influence of gender in DM1. First, maternal inheritance was associated with longer repeat expansions and more severe phenotype, as previously reported [5, 6]. This has been attributed to marked DNA instability in the female germ cell lineage allowing additional triplets insertion during oogenesis [43]. Such instability also results to an anticipation in case of maternal inheritance, a phenomenon corresponding to earlier onset and more severe symptoms observed in successive generations [10]. Surprisingly, and in contrast to the general assumptions, we observed that fathers transmitted up to 9% of neonatalonset (mild or severe) forms and 50% of infantile forms, especially those with lower cognitive impairment. Another unexpected observation was that only a minority of overall DM1 patients(37%) had maternal inheritance, which is most unusual for an autosomal dominant inherited disease. It probably results from increased miscarriage and perinatal lethality observed in female DM1 transmitters.

The second gender difference implied an unequal prevalence of several DM1 signs and symptoms in men and women. These differences could not be accounted for overall quantitative male-to-female disproportion in our study population (considered in all statistical analysis),or for the age and genotype differences between the two groups. Men tended to have more obvious classical DM1 symptoms, combining cognitive impairment, marked myotonia,cardiac and respiratory involvement whereas women had more extra-muscular and lateonset manifestations, less suggestive of DM1, such as cataracts, obesity, dysthyroidism, G Isymptoms and sphincter dysfunction. The most poorly symptomatic patients were women,implicating occasional hidden DM1 transmissions by undiagnosed female mutation carriers.

In practice, the sex-related differential risks of developing specific manifestations may require sex-orientated care management, which should be specifically adapted for men (at higher risk of mechanical ventilation, respiratory failure or cardiac conduction defects,which could provide more frequent hospitalization and increased mortality according PMSI database) as well as for women (at higher risk of thyroidism, obesity, sphincter dysfunction,and cataracts). This gender disproportion suggests that women could be more carefulwith their own health. This is underlined by FDM-S survey showing a similar number ofannual routine visits to the cardiologist and pneumonologist for both genders, despite male have more cardiac and respiratory involvement, which should prompt more regular medical care. Altogether, the results highlight the importance of a greater awareness about preventive medical care in DM1 male individuals.

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