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

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Smell Function (Odor recognition) may be affected by Myotonic Dystrophy

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.

[Impairment of Odor Recognition in Myotonic Dystrophy Type 1].

[Article in Japanese]

Abstract

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.

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Draft report from the Muscular Dystrophy Coordinating Committee

The Muscular Dystrophy Coordinating Committee (MDCC)
MDCC is a government mandate to try and coordinate the research establish to coordinate activities to find cure, treatment and handling daily living of People with Muscular dystrophy : The Muscular Dystrophy Community Assistance, Research, and Education Amendments of 2001 (MD-CARE Act; P.L. 107-84) authorized the establishment of the MDCC, with members appointed by the Secretary of the Department of Health and Human Services, in order to coordinate activities across the National Institutes of Health (NIH) and with other Federal health programs and activities relevant to the various forms of muscular dystrophy. The MDCC was subsequently re-authorized in the MD-CARE Acts of 2008 and 2014, with changes in its composition with each re-authorization.

Click Below for full copy of the Plan

MDCC Action Plan 2015 draft

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Review Article by Giovanni Meola Italy on Myotonic Dsytrophy Dec 2013

This is a review article by Giovanni Meola from Italy published in 2013. Click for link ==>Review Article Meola Dec 2013

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Causes of Death Myotonic Dystrophy – Survival to age 65 lower

This is an older study from 1998 but many folks ask about the longevity with this disease. How long will I live with myotonic dystrophy?

Age and causes of death in adult-onset myotonic dystrophy.

Brain

(1998) 121 (8): 1557-1563. doi: 10.1093/brain/121.8.1557

  1. C E de Die-Smulders,
  2. C J Höweler,
  3. C Thijs,
  4. J F Mirandolle,
  5. H B Anten,
  6. H J Smeets,
  7. K E Chandler and
  8. J P Geraedts

+ Author Affiliations


  1. Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands. christine.dedie@gen.unimaas.nl

Summary

Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications. Long term follow-up is difficult because of the slow progression. The objective of this study was to determine survival, age at death and causes of death in patients with the adult-onset type of myotonic dystrophy. A register of myotonic dystrophy patients was set up in Southern Limburg (the Netherlands), using data longitudinally collected over a 47-year period (1950-97). Survival for 180 patients (from the register) with adult-onset type myotonic dystrophy was established by the Kaplan-Meier method. The median survival was 60 years for males and 59 years for females. Survival of the patients was also estimated from the age of 15 years to the ages of 25, 45 and 65 years and compared with the expected survival of age- and sex-matched birth cohorts from the normal Dutch population. The observed survival to the ages of 25, 45 and 65 years was 99%, 88% and 18% compared with an expected survival of 99%, 95% and 78%, respectively. Thus, survival to the age of 65 in patients with adult-onset myotonic dystrophy is markedly reduced. A weak positive correlation between the CTG repeat length and younger age at death was found in the 13 patients studied (r = 0.50, P = 0.08). The cause of death could be determined in 70 of the 83 deceased patients. Pneumonia and cardiac arrhythmias were the most frequent primary causes of death, each occurring in approximately 30%, which was far more than expected for the general Dutch population. In addition, we assessed mobility in the years before death in a subgroup of 18 patients, as a reflection of the long-term physical handicap in myotonic dystrophy patients. Half of the patients studied were either partially or totally wheelchair-bound shortly before their death.

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