Category Archives: Uncategorized

Falling Down and Myotonic Dystrophy

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falling down in myotonic dystrophy

New information available that will help lend insite into this pervasive problem with myotonic dystrophy. Here is the link to the full study https://www.sciencedirect.com/science/article/pii/S0960896617314037

Highlights

  • •This is the first high scale survey for falls and fractures for Myotonic Dystrophy 1.
  • •DM1 adults showed 2.3 more risk of falling than a healthy adult over 65 years of age.
  • •These results presented no impact of respondent sex for risk of falls.
  • •Age showed to be a significant predictor for falls in DM1.
  • •Falls in DM1 are still an unpredicted & underestimated factor that requires attention.

Abstract

Myotonic Dystrophy type 1 multisystem involvement leads to functional impairment with an increased risk of falling. This multinational study estimates the prevalence of falls and fall-associated fractures. A web-based survey among disease-specific registries (Germany, UK and The Netherlands) was carried out among DM1 ambulant adults with a total of 573 responses retrieved. Results provided a risk ratio estimation of 30%–72% for falls and of 11%–17% for associated fractures. There was no significant difference for falls between male and female, but there was for fall-related fractures with a higher prevalence in women. Balance and leg weakness were the most commonly reported causes for falling. This study is based on a voluntary retrospective survey with naturally inherent limitations; however, the sample size allows for robust comparisons. The estimated risk of falls in this cohort with a mean age of 46 years compares to a previous estimation for a healthy population of over 65 years of age. These results suggest a premature-ageing DM1 phenotype with an increased risk of falling depending on age and disease severity that, so far, might have been underestimated. This may have clinical implications for the development of care guidelines and when testing new interventions in this population.

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The Christopher Project – Myotonic Dystrophy Survey

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This is a comprehensive survey of the Myotonic Dystrophy Population. Its very interesting for me personally as my Sons name is Christopher and he was born in the Midwest. Recently the Report was mailed to interested parties and there is a link to the Full report at the very end of the report. I would recommend that you fill out the form and the receive the full report. There are some data summaries and survey samples in this post as well. Over 4,000 surveys were sent out to a randomized group of contacts on patient organization and others mailing list. Over 1000 were returned. Here is some summary information about the report.

The Christopher Project is a collaborative research project between national patient advocacy organizations, healthcare providers, and patients and families in the USA and Canada. It was designed to complement existing research by directly surveying patients and their family members/caregivers about their experience living with myotonic dystrophy.
To accomplish this, a large survey was distributed to patients in the summer of 2014 and a follow-up survey was distributed to family members/caregivers in early 2015. This Data Supplement is a summary of all of the responses to the questions asked on both surveys, presented as ‘frequency tables’ (i.e., how ‘frequently’ each answer appeared).
This Data Supplement is a companion to the main Christopher Project Report to the Myotonic Dystrophy Community, which can be found online at: www.christopherproject.org.

ChristopherProject-Patient-Survey-SAMPLE

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Review Article on Myotonic Dystrophy

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A new article was published on myotonic dystrophy from a number of researchers in Spain. This was a broad review by many specialists. We do not yet have a full review of the article but when the full article is available we will review it more thoroughly. Here are a few key conclusions:

The genetic diagnosis of myotonic dystrophy should quantify the number of CTG repetitions. -reason this gives some idea of the severity of the disease

Myotonic Dystrophy patients need cardiac and respiratory lifetime follow-up. These symtoms get worse with time and must be tracked

Before any surgery under general anaesthesia, a respiratory evaluation must be done for myotonic dystrophy patients. surgery is serious and the anesthesiologist needs to know the strength of the respiratory system.

Dysphagia in myotonic dystrophy must be screened periodically. – This can cause severe problems and can give an idea of the progression fo the disease

Genetic counselling must be offered to patients and relatives with myotonic dystrophy.

Here is the abstract from pubmed

Neurologia. 2019 Apr 16. pii: S0213-4853(19)30019-2. doi: 10.1016/j.nrl.2019.01.001. [Epub ahead of print]

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert’s disease.

[Article in English, Spanish]Gutiérrez Gutiérrez G1, Díaz-Manera J2, Almendrote M3, Azriel S4, Eulalio Bárcena J5, Cabezudo García P6, Camacho Salas A7, Casanova Rodríguez C8, Cobo AM9, Díaz Guardiola P4, Fernández-Torrón R10, Gallano Petit MP11, García Pavía P12, Gómez Gallego M13, Gutiérrez Martínez AJ14, Jericó I15, Kapetanovic García S16, López de Munaín Arregui A17, Martorell L18, Morís de la Tassa G19, Moreno Zabaleta R20, Muñoz-Blanco JL21, Olivar Roldán J4, Pascual Pascual SI21, Peinado Peinado R22, Pérez H23, Poza Aldea JJ10, Rabasa M24, Ramos A3, Rosado Bartolomé A25, Rubio Pérez MÁ26, Urtizberea JA9, Zapata-Wainberg G27, Gutiérrez-Rivas E28.

Author information

Abstract

BACKGROUND AND OBJECTIVES:

Steinert’s disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1.

MATERIAL AND METHODS:

Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide.

RECOMMENDATIONS:

The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives.

CONCLUSION:

MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

Copyright © 2018 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

KEYWORDS:

Clinical guideline; Complicaciones; Complications; Disfagia; Distrofia miotónica tipo 1; Dysphagia; Enfermedad de Steinert; Guía clínica; Myotonic dystrophy type 1; Recomendaciones; Recommendations; Steinert’s disease

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Fatigue and Myotonic dystrophy

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Many patients with myotonic dystrophy feel tired. Clicians see these as fatigue which can affect a patients life significantly. A recent study that we are reviewing stated that it may be a combination of fatigue and depression. Depression has been noted in many myotonic dystrophy patients. Here is the conclusion of the study


In summary, these data shows a significantly higher prevalence of perceived fatigue in patients with DM1 than in matched healthy control subjects, with an experienced impact on physical and psychosocial domains.These findings support the inclusion of fatigue as a main target for treatment interventions aimed to reduce fatigue through cognitive behavioral therapy and graded exercise. Such an intervention was recently applied and shown to reduce fatigue,increase activity and improve social participation [38].

Fatigue-and-Myotonic-Dystrophy

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MDF Annual Myotonic Dystrophy Conference 2019 in Philly

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The date for the annual Myotonic Dystrophy Foundation conference has been announced for Sept 13-14th 2019 in Philadelphia, PA at the Loews Hotel The conference price is US $158.61 This is generally a great conference both for information about the disease and networking for people who have the disease and families and caregivers. Highly recommended. Here is some information about the conference and some links

The Myotonic Dystrophy Foundation (MDF) is pleased to announce the 2019 MDF Annual Conference, taking place Friday, September 13 and Saturday, September 14, 2019, at the Loews Philadelphia Hotel in Philadelphia, PA. This year’s conference program will include a host of sessions exploring research, drug development, disease symptom management, and provide formal and informal community networking opportunities.

An all-day Friday Professionals Track for industry and academia will provide closed sessions on a variety of current research topics, a Drug Development Roundtable, and more.

Professionals interested in attending the full-day meeting: CNS Outcome Measures Development Workshop, being held Thursday, September 12 at the Philadelphia Convention Center, need to register separately for this event. Click here for more information.

Join us at the Loews Philadelphia Hotel by the historic Reading Terminal Market for this outstanding DM event.

Below is the link to the Eventbrite webpage for more information and registration

https://www.eventbrite.com/e/2019-mdf-annual-conference-registration-58404540553?aff=ebdsorderfbbutton&fbclid=IwAR2bkdLfQOT3jYBWgmOj5mhuZ-hCXjg_Y1dsMTRN_WRWtK4hwLDkbg8zm74

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