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The prevalence and impact of symptoms affecting individuals with pediatric forms of myotonic dystrophy type-1 (DM1) are not well understood.
This article was published in the following journal.
Name: Muscle & nerve
To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management.
Few adequately-powered studies have systematically evaluated brain morphology in adult-onset myotonic dystrophy type 1 (DM1).
Myotonic dystrophy is an autosomal-dominant disorder. Its congenital type is the most severe form, with respiratory failure that can be a life-threatening event after birth. There are no antenatal tre...
Myotonic dystrophy (DM) is a chronic, multi-systemic, neurological condition. Patients and caregivers are uniquely suited to identify what symptoms are most important and highlight the unmet needs tha...
The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington's disease and myotonic dystrophy type 1. A recent Huntington's disease gen...
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...
Myotonic dystrophy (dystrophia myotonica - DM) exists in two forms, usually referred to as DM1 (type 1) and DM2 (type 2). Both conditions are genetic disorders but each affects a different...
Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers...
PhenoDM1 will use patient reported outcomes to assess levels of pain, fatigue and quality of life in this cohort. Clinical and functional outcomes will look at muscle wasting and levels of...
The aim of the study is to evaluate if the electrophysiological study (EPS) guided therapy, including the prophylactic implantation of implantable cardioverter defibrillator (ICD), in indu...
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)
Assessment of the quality and effectiveness of health care as measured and directly reported by the patient.
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.
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...
Muscular dystrophy is a group of degenerative inherited disorders causing muscle weakness and loss of muscle tissue. The different types are Becker muscular dystrophy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, Facioscapulohumeral mu...