Category Archives: Children

These categories deal with children. The juvenile, congenital forms of myotonic dystrophy are discussed.

Myotonic Dystrophy – A preventable disease – Why HealthCare Reform is Needed

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Christopher M is a happy contented 22-year-old man. He functions at a 2-year-old level, requires 24/7 supervision, has multiple medical problems, Brain, lungs, GI tract, Heart, Muscles. His medical costs to date are over $2 million dollars and education and other support over $1 million. Christopher M has congenital  myotonic dystrophy a neuromuscular disease with no cure, no treatment except symptom relief.  This congenital form is caused by the conception and birth or a child to a mother who has the adult form of the disease. Whats has even more impact is that each generation with myotonic dystrophy the children get sicker and have more and more severe symptoms.

Both the these diseases DM1 and the congenital form of the disease (CMD) can be prevented by using Pre-Implant Genetics (PGD) along with in vitro fertilization  (IVF) for those who wish to have a health child. Myotonic Dystrophy is preventable in most cases, except where religious belief would interfere with IVF.

 

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

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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.

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Daytime Sleepiness in Myotonic Dystrophy Causes

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This is a study (1994)  that looked at the causes of sleepiness in patients with myotonic dystrophy. They concluded that these sleep issues are not caused by sleep apnea. A number of the patients were able to get some relief with Ritalin. Ritalin has a low amount of cardiac side effects. However, this drug may have some cardiac side effects so clear it with your doctor cardiologist before use

Daytime Sleepiness is not caused by Sleep Apnea

J Neurol Neurosurg Psychiatry. 1994 May;57(5):626-8.

Daytime sleep in myotonic dystrophy is not caused by sleep apnoea.

Source

Department of Neurology, University Hospital Rotterdam-Dijkzigt, The Netherlands.

Abstract

Daytime sleepiness is common in myotonic dystrophy and might be attributed to disturbed nocturnal breathing. Seventeen out of 22 patients complained of excessive daytime sleepiness, resembling “idiopathic hypersomnolence”. Sleep apnoea might have contributed to daytime sleepiness in only three of 17 patients. Treatment with the central stimulant methylphenidate produced sustained benefit in seven out of 11 patients tested. Daytime sleepiness in myotonic dystrophy is usually caused by dysfunction of central sleep regulation and not by disturbed nocturnal breathing.

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Ritalin and Daytime Sleepiness in Myotonic Dystrophy

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Sleepiness is a  issue with some adults and children with Myotonic Dystrophy. Sleepiness or Hypersomnia can have great impact on the social life of patients with myotonic dystrophy. Some patients have reported relief with Provigil although studies have indicated that there is no overall benefit. Provigil may work to help mobilize the sleep patterns so that a person can attend an event but then catch up on sleep later. A new study is looking at a different drug.

This study is by one of the worlds experts in the Disease (DM1) Dr. Puymirat in Quebec, Canada. This article  studies Dr. J PuyrimatRitalin (20mg) and Myotonic dystrophy related to sleepiness with some good results. However, it is noted that palpitations are a side effect of the study. The risks with Ritalin are low but make sure to see a cardiologist before using or having Ritalin prescribed.

Clin Ther. 2012 May;34(5):1103-11.
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Congential Myotonic Dystrophy Analysis of US National Registry

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Editors Note: This article is an analysis of the US registry. The US registry is a highly biased sample of patients with Myotonic Dystrophy. The registry has very few members with CMD and the questionnaires that are sent out do not deal with questions or issues with the Congenital form of DM. While the information here is somewhat useful many of the symptoms and issues of patients with CMD are not included.

The percentage of the population with DM in the USA registered is less than 5% leading to a highly biased sampling.

PMCID: PMC2952518

Congenital myotonic dystrophy in a national registry
Paediatr Child Health. 2010 October; 15(8): 514–518.

Patrick Prendergast, BSc,1 Sandra Magalhaes, BHSc MSc,1 and Craig Campbell, MD MSc2

Abstract

AIM:

To describe the neonatal symptoms, developmental problems and chronic multisystem medical morbidities of congenital myotonic dystrophy (CDM) patients registered in the United States National Registry of Myotonic Dystrophy – a disease-specific, self-report program maintained since 2002. Comparisons with the Canadian Paediatric Surveillance Program for CDM are highlighted.

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