Neuromuscular disorders : NMD
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Neuromuscul. Disord. · May 2006
Predictors of severe chest infections in pediatric neuromuscular disorders.
Chest infections are serious complications in neuromuscular disorders. The predictive values of lung and respiratory muscle function including peak cough flow still remain unclear. We performed retrospective analysis of 46 children and adolescents (12.7+/-3.7 years) in whom lung function, respiratory muscle function and peak cough flows had been obtained. ⋯ IVC<1.1l and PCF<160 l/min were specific and sensitive thresholds to discriminate between patients who had already suffered severe chest infections and those who had not. Therefore, spirometry and peak cough flow are reliable tests to identify patients at high risk for severe chest infections. Patients with IVC below 1.1l and/or PCF below 160 l/min should be well monitored and introduced to assisted coughing techniques.
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Neuromuscul. Disord. · Feb 2006
Comparative StudyHealth related quality of life in people with hereditary neuromuscular diseases: an investigation of test-retest agreement with comparison between two generic questionnaires, the Nottingham health profile and the short form-36 items.
The present work attempts to define reproducibility, test-retest and internal consistencies of two standardised tools that measure health related quality of life (HRQoL), specifically as they apply to hereditary neuromuscular disease (HNMD): the Nottingham health profile (NHP) and the medical outcome study 36-item short-form questionnaire (MOS SF-36). A cross sectional survey of 108 hereditary neuromuscular disease patients completed the questionnaires consecutively in the course of multidisciplinary consultations in Reims between April 2002 and February 2005. ⋯ There is nonetheless a need for health related quality of life measures validated for neuromuscular disease patients. Health related quality-of-life (HRQoL) measures provide information on how patients assess their health and the care provision they are offered.
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Neuromuscul. Disord. · Feb 2006
Case ReportsBrachial plexus hypertrophy in chronic inflammatory demyelinating polyradiculoneuropathy.
We present the clinical, imaging and neuropathological findings in three patients with predominant brachial plexus neuropathy. MR scanning was key to determining the brachial plexus involvement. Biopsy of the brachial plexus was performed in one patient. The appearances of the brachial plexus on MRI, in conjunction with the clinical presentations of these patients, suggest that they are unusual variants within the spectrum of chronic inflammatory demyelinating polyradiculoneuropathy.
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Neuromuscul. Disord. · Feb 2006
Case ReportsEosinophilic fasciitis in a child mimicking a myopathy.
A 14-year-old boy was suspected of having a myopathy with joint contractures. He presented with progressive painless joint contractures of his right wrist and fingers, and reduced muscle strength of his right arm, without obvious skin changes. Laboratory investigation showed a normal CK, hypergammaglobulinemia and eosinophilia. ⋯ The ultrasound scans 2 years after diagnosis showed improvement, although some thickening of the fasciae was still present, indicating residual changes. In conclusion, eosinophilic fasciitis has to be regarded as a differential diagnosis of painless joint contractures in children. Ultrasonography can be helpful to suspect the diagnosis.
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Neuromuscul. Disord. · Oct 2005
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure.
We recently described a dominant limb myopathy characterised by early respiratory failure whilst affected individuals were still ambulant (autosomal dominant myopathy with early respiratory failure). Early diagnosis and exclusion of this disorder is difficult because of the insidious onset in late adult life and the highly selective muscle involvement, both clinically and pathologically. We performed muscle magnetic resonance imaging on seven cases of autosomal dominant myopathy with early respiratory failure (age range 37-66 years, 4 male) and show selective early involvement of semitendinosus and obturator externus on magnetic resonance imaging that cannot be detected clinically, with different rates of progression in closely related muscles. These findings are specific to autosomal dominant myopathy with early respiratory failure and enable early non-invasive diagnosis for individuals at risk.