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
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.
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.
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.
Medical Cost
When my son was born I had no idea that he would be an Over 5 Million Dollar Man.But he was born as a premmie and our medical bills started even before Day 1. The major cost of the disease concentrations on respiratory symptoms. For young people with this disease a strong effort is made to stabilize and improve respiratory function. The recovery period for individuals with this disease is very lengthy.
Moms confinement before delivery $200,000
85 day NICU stay $1,400,000
Ear Tube Placements (8) 40,000
Special Education Grade 0-6 200,000
Heel Cord Surgery 25,000
Special Education grade 7-14 210,000
Caregivers state of Ca 2012-2016 450,000
Hospitalization 2010 (80 days) 875,000
Hospitalization 2015 (79 Days) 850,000
Hospitalization 2016 (89 days) 950,000
Cardiac Monitoring 40,000
Currently we are at US$5.2 Million in Hospital and Medical Care for him. The insurance has picked up all the costs incurred, but still its a high price.
In the USA the incident of congenital myotonic dystrophy is 1/100,000. That computes to about 3,500 individuals with the disease. At a five million dollar overall cost the math computes to an overall projected cost could top 18.2 billion.
If the 5 million is a outlier the cost would still be in the neighborhood of $10 billion overall cost. That’s a very high cost to society.
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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