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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. The diagnosis of a CD8+ T-CLL was based on peripheral blood samples and bone marrow aspiration. The post-mortem analysis of skeletal muscle showed fascicular atrophy, which may support a neurogenic component in s-IBM and the analysis of the brain showed only a few diffuse plaques in different cortical regions and occasionally neuritic plaques. A pathophysiological analogy between s-IBM and Alzheimer's has been suggested on the basis of similarities in protein accumulation in muscle of s-IBM patients and brain of Alzheimer's patients. However, we were unable to detect any changes suggestive of Alzheimer's disease in the brain of the s-IBM patient presented here. [ABSTRACT FROM AUTHOR]

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. After a wash-out period of 12 weeks, where none received training, the order was reversed. The Grippit® was used as primary outcome measure and the hand-held Microfet2™ myometer, the Purdue Pegboard, the Canadian Occupational Performance Measure (COPM) and the Assessment of Motor and Process Skills (AMPS) were secondary outcome measures. Assessments were performed before and after training and control periods, i.e. four times altogether., Results: Ten persons dropped out and 13 had acceptable adherence. Intention-to-treat analyses revealed significant intervention effects for isometric wrist flexor force (p = 0.048), and for COPM performance (p = 0.047) and satisfaction (p = 0.027). On an individual level, improvements were in general showed after a training period., Conclusion: The hand-training programme had positive effects on wrist flexor force and self-perception of occupational performance, and of satisfaction with performance. No evident detrimental effects were shown., Implications for Rehabilitation: Myotonic dystrophy type 1 (DM1) is a slowly progressive neuromuscular disease characterised by myotonia and muscle weakness and wasting. People with DM1 are often concerned about their ability to carry out ADL and to participate in, e.g. work, sports and hobbies when they gradually become weaker. This pilot study showed that a hand-training programme improved wrist flexor force and self-perception and satisfaction of occupational performance. Resistance training of hand muscles with a silicon-based putty can be a therapy option for people with DM1 in clinical practise.

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. In the present study, the participants were their own controls using pre- and post-test measures. Each participant was tested at intervals a total of nine times before and nine times after hand training. A hand-held myometer (Microfet2), Grippit, Purdue Pegboard and self-rated myotonia were used as outcome measures. Occupational performance was assessed pre- and post-test using the Canadian Occupational Performance Measurement (COPM) in which the participants rated their own performance and satisfaction in five self-chosen occupational performance areas. The participants performed hand training for a total of three months, three times per week using a specific resistance training programme including Theraputty, a silicone-based putty. Hand function was significantly increased and a positive change in self-rated occupational performance was noted after the training period. This study indicates that hand training has a positive effect on hand function, i.e. motor function and occupational performance. The present results need to be replicated in a controlled study including a larger number of patients and over a longer period of time.

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. However, there is a risk of "curriculum overload" with too much information being put into a short time interval. To avoid this and to define what is really the "core" of a course, a national consensus decision may be useful. As an example of this approach, we here report a new joint Swedish core curriculum in neurology for medical students. Teachers responsible for neurological education at all six universities giving University MD education in Sweden have in January 2003 agreed upon the core curriculum that we present. It is our hope that this method can be useful also for other clinical specialities.

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. Neurophysiological examinations were performed at various times during the course of CIM., Setting: All patients were treated in intensive care units at Karolinska Hospital., Patients and Participants: We studied 11 patients with CIM, 5 patients with axonal neuropathies, and 42 control individuals., Measurements and Results: The histopathological changes included in all cases muscle fiber atrophy, degeneration, regeneration, nuclear changes, and reduction in myofibrillar ATPase activity in both type I and II fibers. In severely affected muscles fiber type differentiation was lost. On TEM preferential loss of thick filaments was the dominant finding. In some patients changes were present only in parts of the specimen. The neurophysiological examinations indicated myopathy in five patients and combined myopathy and neuropathy in five and suggested neuropathy in one. The SDS-pore PAGE used showed a technical variation of 4-5%. Quantitative results were obtained within 1 day and night. The mean value of the myosin/actin ratio in controls was 1.37+/-0.21 and in CIM patients 0.37+/-0.17, without overlapping with the control values., Conclusions: Considering the diagnostic difficulty using morphological and neurophysiological methods, especially in early stages of CIM, we suggest including SDS-pore PAGE to determine the myosin/actin ratio for rapid diagnosis of CIM.

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., Summary: The scientific basis for solid recommendations of different exercise regimens in muscular dystrophies is poor, but existing data suggest beneficial effects of adopting an active lifestyle. Low- to moderate-intensity resistance and aerobic training may be recommended in slowly progressive myopathic disorders. To date, there is no evidence to support the recommendation of high-resistance exercise regimens over low-moderate intensity exercise. In rapidly progressive myopathies, which are due to aberrant structural proteins such as Duchenne muscular dystrophy, the use of high-resistance and eccentric training should be avoided. There is still, however, no evidence that physical training can influence the evolution of muscular dystrophies in the long term.

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. Published data remain controversial, partly due to the mixed cell populations found in most tissues examined. We have microdissected human skeletal muscle biopsies from myotonic dystrophy 1 patients and controls and analysed gene expression at this locus for type I and type IIA fibres, using quantitative real-time reverse transcription-polymerase chain reaction. Levels of DMPK expression were specifically decreased in the type IIA fibres of myotonic dystrophy patients, below the levels found in controls. This suggests that DMPK expression is altered in this disease, suggesting significant pathological consequences., (Copyright 2001 Academic Press.)