Effects of hand-training in persons with myotonic dystrophy type 1--a randomised controlled cross-over pilot study.

Purpose: To investigate the effects of a hand-training programme on grip, pinch and wrist force, manual dexterity and activities of daily living, in adults with myotonic dystrophy type 1 (DM1).

Method: In this randomised controlled trial with a crossover design, 35 adults with DM1 were, after stratification for grip force, assigned by lot to two groups. Group A started with 12 weeks of hand training, while group B had no intervention.

Signs of critical illness polyneuropathy and myopathy can be seen early in the ICU course.

Background: Critical illness polyneuropathy and myopathy (CIPNM) is recognized as a common condition that develops in the intensive care unit (ICU). It may lead to a prolonged hospital stay with subsequent increased ICU and hospital costs. Knowledge of predisposing factors is insufficient and the temporal pattern of CIPNM has not been well described earlier.

Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1.

Aims: Myotonic dystrophy type 1 (DM1), one of the most common forms of inherited neuromuscular disorders in the adult, is characterized by progressive muscle weakness and wasting leading to distal muscle atrophy whereas proximal muscles of the same patients are spared during the early phase of the disease. In this report, the role of satellite cell dysfunction in the progressive muscular atrophy has been investigated.

Methods: Biopsies were obtained from distal and proximal muscles of the same DM1 patients.

Impact of post-synaptic block of neuromuscular transmission, muscle unloading and mechanical ventilation on skeletal muscle protein and mRNA expression.

To analyse mechanisms of muscle wasting in intensive care unit patients, we developed an experimental model where rats were pharmacologically paralysed by post-synaptic block of neuromuscular transmission (NMB) and mechanically ventilated for 9+/-2 days. Specific interest was focused on the effects on protein and mRNA expression of sarcomeric proteins, i.e.

Sarcoplasmic body myopathy--a rare hereditary myopathy with characteristic inclusions.

Objectives: To characterise a Swedish family with a rare hereditary myopathy with unique sarcoplasmic inclusion bodies in the muscle biopsy.

Materials And Methods: Part of the pedigree was described in 1980. Nine new members of the included and the phenotype further characterised through clinical, neurophysiological and radiological investigations.

Effects of a hand training programme in five patients with myotonic dystrophy type 1.

The aim of this study was to evaluate hand function and self-rated occupational performance before and after specific hand training in five participants with myotonic dystrophy (MD) type 1. MD is the commonest of the muscular dystrophies with adult onset and is associated with muscle weakness, wasting and myotonia. Compensatory techniques and strategies are mostly offered as the only intervention therapy.

[A national curriculum in neurology for medical education].

The knowledge within medicine is growing rapidly. It has become more and more difficult to decide what knowledge that has to be taught to medical students during their University Medical Degree (MD) education and what has to be omitted from their study plans. As help for teachers and students, a core curriculum of the education defines what is of importance for all students.

Sporadic inclusion body myositis: morphology, regeneration, and cytoskeletal structure of muscle fibres.

Objective: To characterise morphological abnormalities in relation to muscle fibre type in sporadic inclusion body myositis (s-IBM).

Methods: 14 muscle biopsies from 11 patients with s-IBM were characterised for morphological abnormalities and fibre type composition as well as muscle fibre regeneration and cytoskeletal structure, using histochemical and immunohistochemical techniques.

Results: Morphological abnormalities included inflammatory infiltrates and "rimmed vacuoles," and pronounced variation in fibre size.

Changes in diaphragm structure following prolonged mechanical ventilation in piglets.

Background: Prolonged mechanical ventilation and inactivity negatively affect muscle function. The mechanisms for this dysfunction are unclear and clinical studies of respiratory muscle are difficult to carry out. An animal model simulating the critical care environment was used to investigate the effects of 5 days' mechanical ventilation and diaphragm inactivity on diaphragm muscle morphology.

Fiber-type composition and fiber size of the human cricopharyngeal muscle and the pharyngeal constrictor muscle.

Background: Despite a similar density of nicotinic acetylcholine receptors, the upper esophageal sphincter is sensitive to partial neuromuscular block, whereas the pharyngeal constrictor muscle is more resistant. In order to postulate possible mechanisms behind this difference in pharmacological response, basic knowledge of morphological and physiological features of these muscles is needed. The aim of this study was to compare the muscle fiber-type composition, the size and the morphology of the muscle fibers of the cricopharyngeal muscle, the main component of the upper esophageal sphincter, with that of the pharyngeal constrictor muscle.

Electrophoretic determination of the myosin/actin ratio in the diagnosis of critical illness myopathy.

Objective: To develop a rapid method to quantify myosin in muscle biopsy specimens from patients with critical illness myopathy (CIM).

Design: Percutaneous muscle biopsy specimens at different stages of CIM were examined by light microscopy and transmission electron microscopy (TEM) and by horizontal pore gradient SDS electrophoresis (SDS-PAGE). The myosin/actin ratio was calculated densitometrically.

Muscular dystrophies: influence of physical conditioning on the disease evolution.

Purpose Of Review: To summarize the current knowledge of the effects of physical activity on muscular dystrophies.

Recent Findings: Although the usefulness of exercise training in muscular dystrophy patients has been debated for many years, only a limited number of articles addressing this issue have been published to date. Existing studies on the effects of strength training in patients with muscular dystrophies have shown promising results, but interpretations are hampered by several methodological shortcomings.

Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers.

Myotonic dystrophy 1 is caused by the expansion of a CTG trinucleotide repeat on chromosome 19q13.3. The repeat lies in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK), and it has been hypothesised that the expansion alters the expression levels of DMPK and/or its neighbouring genes, DMWD and SIX5.

Muscle training in muscular dystrophies.

There has been a debate for many years on whether muscular training is beneficial or harmful for patients with myopathic disorders and the role of exercise training in the management of these patients is still controversial. Much of this confusion is because of the lack of well-designed controlled training studies on this heterogenic group of disorders. Because effective therapies are still lacking, the patients have to rely on symptomatic treatment in which continuous physiotherapy plays an important role.

A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus.

Ciliary function is essential for normal cellular activity in all species from simple protozoa upwards. In humans, ciliary dysmotility or complete immobility have been identified in autosomal recessive multisystemic diseases characterized by recurrent respiratory tract infections and male subfertility due to impaired sperm mobility. Linkage to human chromosome 19q13.

Report of a patient with inclusion body myositis and CD8+ chronic lymphocytic leukaemia--post-mortem analysis of muscle and brain.

We report a 73-year-old woman with sporadic inclusion body myositis (s-IBM) and a T-cell chronic lymphocytic leukaemia (T-CLL). The s-IBM diagnosis was based on clinical symptoms and muscle biopsy showing inflammatory infiltrates and rimmed vacuoles with 15 18 nm diameter tubulofilamentous inclusions on ultrastructural examination. The inflammatory infiltrates consisted of CD8+ T-lymphocytes and macrophages.

Neuromuscular and psychomotor abnormalities in patients with schizophrenia and their first-degree relatives.

In previous studies of schizophrenic patients, neuromuscular (histopathological and electrophysiological) and psychomotor (finger tapping) abnormalities were found. The present study was designed to investigate relationships between these abnormalities and a family history of psychosis in 14 schizophrenic patients and 25 unaffected first-degree relatives compared to 14 healthy controls. Muscle biopsies were performed in either m.

Muscle biopsy, macro EMG, and clinical characteristics in patients with schizophrenia.

Background: In a previous study of motor unit properties in patients with schizophrenia, muscle fiber histologic and electrophysiologic abnormalities were observed. The present study was designed to compare patients with schizophrenia with healthy control subjects with regard to muscle fiber histology and motor unit function. A second objective was to relate these variables to clinical characteristics.

Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration.

Myotonic dystrophy is caused by a CTG(n) expansion in the 3'-untranslated region of a serine/threonine protein kinase gene (DMPK), which is flanked by two other genes, DMWD and SIX5. One hypothesis to explain the wide-ranging effects of this expansion is that, as the mutation expands, it alters the expression of one or more of these genes. The effects may vary in different tissues and developmental stages, but it has been difficult to develop these hypotheses as the normal postnatal developmental expression patterns of these genes have not been adequately investigated.

Contractile properties of single muscle fibers in myotonic dystrophy.

Muscle fiber contractile dysfunction in myotonic dystrophy (MD) is poorly understood. We biopsied the tibialis anterior of two symptomatic and three asymptomatic subjects (aged 21-31 years) with the MD mutation. Biopsies were freeze dried.

Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels.

The causative mutation in the majority of cases of myotonic dystrophy has been shown to be the expansion of a CTG trinucleotide repeat, but the mechanism(s) by which this repeat leads to the very complex symptomatology in this disorder remains controversial. We have developed a highly sensitive and quantifiable assay, based on competitive RT-PCR, to test the hypothesis that the expansion disrupts the expression of the genes in its immediate vicinity, DMPK, 59 and DMAHP. In order to avoid cell culture-induced artifacts we performed these experiments using adult skeletal muscle biopsy samples and analysed total cytoplasmic poly(A)+mRNA levels for each gene simultaneously, as this is more physiologically relevant than allele-specific levels.

Effects of high resistance training in patients with myotonic dystrophy.

Nine ambulatory subjects with myotonic dystrophy participated in a supervised 12-week progressive high-resistance training program. Knee extensor muscles were trained 3 times a week with free weights, 3 x 10 repetitions at 80% of 1RM. One leg was randomly chosen for training and the other served as control.

CTG-repeat length in distal and proximal leg muscles of symptomatic and non-symptomatic patients with myotonic dystrophy: relation to muscle strength and degree of histopathological abnormalities.

Myotonic dystrophy (DM) is an autosomal dominant, multisystemic disorder with a variable phenotypic expression including muscle weakness and myotonia. The muscle wasting is most marked in distal limbs and in facial and neck muscles, although proximal limb muscles become affected as the disease progresses. The CTG-trinucleotide-repeat expansion associated with myotonic dystrophy is usually larger in muscle tissue than in leukocytes.

Charcot-Marie-Tooth disease type 1 and 2-an immunohistochemical study of muscle fibre cytoskeletal proteins and a marker for muscle fibre regeneration.

In 10 patients with Charcot-Marie-Tooth disease type 1 (CMT1), hereditary motor and sensory neuropathy (HMSN) type 1, demyelinating form, and 10 patients with CMT2, HMSN type 2, axonal form, monoclonal antibodies directed against dystrophin, spectrin, desmin, vimentin and a myoblast and satellite-cell related antigen, Leu-19, were applied to muscle biopsies from the anterior tibial muscle. Data from the biopsies were compared with those from 20 age- and sex-matched healthy controls. Both CMT1 and CMT2 patients had normal stainings for dystrophin and spectrin, indicating a normal muscle fibre cytoskeletal structure.

Larger CAG expansions in skeletal muscle compared with lymphocytes in Kennedy disease but not in Huntington disease.

The size of CAG repeats was compared in lymphocytes and skeletal muscle from nine patients with Huntington disease (HD) and two patients with Kennedy disease (KD). In HD, the number of CAG repeats did not differ between lymphocytes and skeletal muscle. In the two KD patients, however, the CAG expansion was larger in muscle than in lymphocytes.