Advertisement

Topics

Cardiac and Respiratory Prognosis in Myotonic Dystrophy Type 1

2014-07-23 21:08:54 | BioPortfolio

Summary

Myotonic dystrophy type 1 (DM1) is the most frequent neuromuscular disease in adults. DM1 patients have an impaired prognosis (mean age of death <60 years) due to cardiac and respiratory complications.

Our primary objective was to identify cardiac and respiratory prognostic factors in DM1.

Description

1. Patients with genetically proven DM1 who were admitted in Pitié Salpêtrière Hospital from 2000 and 2010 will be identified. These patients systematically underwent neurological, cardiac and respiratory investigations.

2. Baseline medical and genetic information will be entered in a dedicated database, including cardiac and respiratory investigations.

3. The occurence of severe cardiac and respiratory adverse events will also be collected.

4. Statistical analysis will be performed to look for correlations between baseline patient characteristics and cardiac or respiratory adverse events during follow up.

Study Design

Observational Model: Cohort, Time Perspective: Retrospective

Conditions

Myotonic Dystrophy

Location

Pitié Salpêtrière Hospital
Paris
Ile de France
France
75013

Status

Recruiting

Source

Institut de Myologie, France

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-07-23T21:08:54-0400

Clinical Trials [196 Associated Clinical Trials listed on BioPortfolio]

Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy

The purpose of this study is to determine whether Tideglusib is safe and efficacious in the treatment of adolescents and adults with congenital and juvenile-onset Myotonic Dystrophy. The p...

Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years

The aim of this study is to determine the factors associated with alveolar hypoventilation in terms of cognitive impairment, daytime sleepiness, respiratory function, nocturnal respiratory...

Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy

This is a randomized, multicenter, double-blind, placebo-controlled, Phase 2/3 study of patients (aged 6 to 16 years) diagnosed with Congenital Myotonic Dystrophy (Congenital DM1).

Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study

The natural history of brain affection in myotonic dystrophy types 1 and 2 is still unknown. The investigators designed a 5-year longitudinal neuropsychological and neuroimaging follow-up ...

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of thi...

PubMed Articles [271 Associated PubMed Articles listed on BioPortfolio]

Myotonic Dystrophy Type 2 - Data from the Serbian Registry.

Myotonic dystrophy type 2 (DM2) is a multisystem disorder, mostly presented with mild but heterogeneous spectrum of symptoms.

A Review of Psychopathology Features, Personality, and Coping in Myotonic Dystrophy Type 1.

The last literature review on psychopathological features in Myotonic Dystrophy type 1 had been conducted by Ambrosini and Nurnberg in 1979. Since that date, many researches had been carried out.

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.

RNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK) genes has been described in Fuchs' endothelial cornea...

Towards clinical outcome measures in myotonic dystrophy type 2: a systematic review.

Myotonic dystrophies are the most frequent muscular dystrophies in adulthood; however, myotonic dystrophy type 2 (DM2) is by far less prevalent than myotonic dystrophy type 1 (DM1). Consequently, stud...

Stepping Activity in Children With Congenital Myotonic Dystrophy.

The purpose of this study was to investigate the physical activity levels in children with congenital myotonic dystrophy (CDM), and to examine whether patient clinical and functional characteristics c...

Medical and Biotech [MESH] Definitions

Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition. These disorders may be associated with abnormal muscle SODIUM CHANNEL and CHLORIDE CHANNELS. MYOTONIC DYSTROPHY and MYOTONIA CONGENITA represent two relatively common forms of this disorder. Proximal myotonic myopathy often presents with myotonia and muscle pain in early adulthood and later in life thigh muscle weakness and cataracts develop. (From Adams et al., Principles of Neurology, 6th ed, p1392)

An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Congenital myotonic dystrophy is a severe form of this disorder, characterized by neonatal MUSCLE HYPOTONIA, feeding difficulties, respiratory muscle weakness, and an increased incidence of MENTAL RETARDATION. (From Adams et al., Principles of Neurology, 6th ed, pp1423-5; Joynt, Clinical Neurology, 1997, Ch16, pp16-7)

A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)

An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.

Serine/threonine protein kinase responsible for various SKELETAL MUSCLE functions; HEART CONDUCTION SYSTEM activity; calcium HOMEOSTASIS; calcium uptake by SARCOPLASMIC RETICULUM and SYNAPTIC PLASTICITY. It is encoded by the DMPK gene and its abnormal EXPANDED TRINUCLEOTIDE REPEAT of CTG in the 3'-UTR is associated with MYOTONIC DYSTROPHY 1.

More From BioPortfolio on "Cardiac and Respiratory Prognosis in Myotonic Dystrophy Type 1"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topic

Respiratory
Asthma COPD Cystic Fibrosis Pneumonia Pulmonary Medicine Respiratory Respiratory tract infections (RTIs) are any infection of the sinuses, throat, airways or lungs.  They're usually caused by viruses, but they can also ...


Searches Linking to this Trial