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myotonic dystrophy/cansancio
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Fatigue and daytime sleepiness scale in myotonic dystrophy type 1.
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BACKGROUND
Fatigue and excessive daytime sleepiness are frequent complaints in myotonic dystrophy type 1 (DM1) that often overlap. We aimed to construct a combined fatigue and daytime sleepiness rating scale for DM1 using the Rasch measurement model.
METHODS
Questionnaires, including the Epworth
Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1.
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Myotonic dystrophy is the most common adult muscle dystrophy. In view of emerging therapies, which use animal models as a proof of principle, the development of reliable outcome measures for in vivo longitudinal study of mouse skeletal muscle function is becoming crucial. To satisfy this need, we
Patient Input to Inform the Development of Central Nervous System Outcome Measures in Myotonic Dystrophy.
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Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are multisystem, genetic disorders caused by repeat expansions on chromosome 19 (DM1) and chromosome 3 (DM2). Although the effects of DM on the skeletal, cardiac, and smooth muscles, as well as the endocrine and central nervous
Fatigue and neuromuscular diseases.
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OBJECTIVE
To identify the role of fatigue, its evaluation and its causes in the pathophysiology context of acquired or hereditary neuromuscular diseases of the spinal anterior horn cell, peripheral nerve, neuromuscular junction and muscle.
METHODS
A literature review has been done on Medline with
[Successful treatment of recurrent hypoglycemia by pioglitazone in a patient with myotonic dystrophy].
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A 20 year-old woman with myotonic dystrophy type 1 (DM1) presented with fatigue, daytime somnolence, and sudden poor responsiveness. Blood glucose was measured before and after each meal for 4 days, and hypoglycemia was confirmed twice, although neither perspiration nor palpitations occurred in the
Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy.
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OBJECTIVE
To evaluate the potential of modafinil in reducing excessive daytime somnolence (EDS) and enhancing indexes of quality of life and mood in patients with myotonic dystrophy (DM).
METHODS
Forty patients with DM were randomized to receive modafinil and placebo for 14 days each, using a
[Cardiac, respiratory and sleep disorders in patients with myotonic dystrophy].
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Myotonic dystrophy (MD) is a genetically determined disease with autosomal dominant mode of inheritance. Relatively recently, MD has been divided into two sub-types (MD1 and MD2). Clinical symptoms of MD1 result from the expansion of a (CTG)n trinucleotide of the gene coding for serine/threonine
Brain sonography insight into the midbrain in myotonic dystrophy type 2.
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BACKGROUND
The aim of this study was to analyze transcranial sonography (TCS) findings in genetically confirmed myotonic dystrophy type 2 (DM2) patients.
METHODS
Forty DM2 patients and 38 gender- and age-matched healthy controls (HCs) underwent TCS through the pre-auricular acoustic bone
Chronic muscle stimulation improves muscle function and reverts the abnormal surface EMG pattern in myotonic dystrophy: a pilot study.
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BACKGROUND
To date, in Myotonic Dystrophy type 1 (DM1) the rehabilitative interventions have always been aimed at muscle strengthening, increasing of fatigue resistance and improving of aerobic metabolism efficiency whereas the electrical membrane fault has always been addressed pharmacologically.
Prevalence and correlates of apathy in myotonic dystrophy type 1.
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BACKGROUND
Apathy in DM1 has long been acknowledged in clinical practice. However, a major drawback is that the concept has been only sparsely explored in previous specific studies. This study aimed to determine the prevalence of apathy in myotonic dystrophy (DM1), to compare it with
Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.
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Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and
Myotonic Dystrophy Type 1 Management and Therapeutics.
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UNASSIGNED
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic
Significant impact of behavioral and cognitive impairment on quality of life in patients with myotonic dystrophy type 1.
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OBJECTIVE
To assess an impact of cognitive and behavioral impairment on QoL in a larger cohort of patients with DM1.
METHODS
Sixty six genetically confirmed DM1 patients (22 with juvenile (jDM1) and 44 with adult form (aDM1) of the disease) were recruited. Following behavioral tests were used:
A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients.
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Contractile dysfunction in muscle may underlie androgen-dependent motor dysfunction in spinal bulbar muscular atrophy.
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Spinal and bulbar muscular atrophy (SBMA) is characterized by progressive muscle weakness linked to a polyglutamine expansion in the androgen receptor (AR). Current evidence indicates that mutant AR causes SBMA by acting in muscle to perturb its function. However, information about how muscle
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