Myotonic Dystrophy Patients Show Vitamin D Deficiencies

A recent Italian study of myotonic dystrophy patients concluded that many patients up to 88% may show deficiencies of Vitamin D. Over 40% of patients showed severe Vitamin D deficiencies. Patients with DM may need to consider a multivitamin of Vitamin D supplement to insure adequate nutrition. Many DM patients have less social and ambulatory abilities which may limit their outdoor activities in sunny weather. The sunĀ  which is a source of vitamin D.

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Isis Pharmaceuticals Myotonic Drug

Informal reports continue to give good vibes on the drug that Isis pharmaceuticals is developing for myotonic dystrophy (DM). The drug is an antisense approach one that will break up the clogs that are causing the DM disease. Very little information is being released by the company, however.

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Myotonic Dystrophy Testing Costs

What is the cost for confirming the diagnosis for Myotonic Dystrophy. Do patents affect this cost? This Data is current as of May 2013

The costs for patents and access to testing is a major cost in the Myotonic Dystrophy Field. Here is a brief review of the costs.

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Myotonic Fundraiser Tweet #raceforall

A retired surgeon from Bosham wants to raise as much money as possible for the Myotonic Dystrophy Support Group in England in support of three family members who suffer from the condition when he once again takes part in the J.P. Morgan Asset Management Round the Island Race. Tweet #raceforall to raise 10p ( about 16 USA cents)
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Report of using BiPAP with Infants Newborns with Congential Form of Myotonic Dystrophy

Successful use of BiPAP in infants with congenital myotonic dystrophy.

Source

Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children’s Hospital and Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong.

Abstract

Reported herein are two cases of severe phenotype of congenital myotonic dystrophy (CDM) with presentation of respiratory insufficiency at birth. The infants were successfully managed with bi-level positive airway pressure (BiPAP) via nasal mask. The use of BiPAP in infants with CDM has not been reported before. The rationale for using BiPAP is discussed. BiPAP may be more effective than continuous positive airway pressure in managing respiratory insufficiency, especially in infants with the more severe phenotype of CDM.

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