Falling Down and Myotonic Dystrophy

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.

Review Article on Myotonic Dystrophy

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 G1Díaz-Manera J2Almendrote M3Azriel S4Eulalio Bárcena J5Cabezudo García P6Camacho Salas A7Casanova Rodríguez C8Cobo AM9Díaz Guardiola P4Fernández-Torrón R10Gallano Petit MP11García Pavía P12Gómez Gallego M13Gutiérrez Martínez AJ14Jericó I15Kapetanovic García S16López de Munaín Arregui A17Martorell L18Morís de la Tassa G19Moreno Zabaleta R20Muñoz-Blanco JL21Olivar Roldán J4Pascual Pascual SI21Peinado Peinado R22Pérez H23Poza Aldea JJ10Rabasa M24Ramos A3Rosado Bartolomé A25Rubio Pérez MÁ26Urtizberea JA9Zapata-Wainberg G27Gutiérrez-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

Myotonic Dystrophy and the Bladder

Bladder and urinary issues in Myotonic Dystrophy are not reported as well as they should be. Many patients report incontinence problems but this is not listed on many of the myotonic dystrophy sites as an issue. During hospitalization incontinent issues may be of greater visualization as hospitals now have bladder scanners to look at this issue.

The issues with incontinence are many as shown in the attached study. Retention issues arise as the hospitals use 400ML of urine before they want to catheterize.

See attached file for more information.

 

International Scientist meeting of Myotonic Dystrophy Researchers in San Francisco Sept 5-9 2017

The IDMC meeting will be in San Fransisco this year. Make plans to attend the scientific sessions  or the meeting of the Myotonic Dystrophy foundation

Please save September 5th – 9th, 2017 for the IDMC-11 conference being held in San Francisco, California. If you are interested in receiving updates about IDMC-11, please sign up online at www.idmc11.org.

IDMC 11

Welcome to the IDMC website, home of the International Myotonic Dystrophy Consortium (IDMC, or International Dystrophia Myotonica Consortia). This site is dedicated to the community of scientists, physicians and health care providers who have taken up the fight against Myotonic Dystrophy, a progressive neuromuscular disease that effects people and families around the world.

Myotonic Dystrophy Researchers to Gather in San Francisco in Sept 2017

The International Myotonic Dystrophy Consortium  (IDMC-11) will meet in September 5th- 9th of 2017 in San Francisco California. This meeting features a strong scientific program of highly technical information with hundreds of scientists, physicians, and technical advisors. The meeting also features a patient program as well with some information transfer to the patients. Sign up below for more information:

http://www.idmc11.org