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2,009 results
  • GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. [Review]
  • NNeurotherapeutics 2018 Oct 18
  • Carrillo N, Malicdan MC, Huizing M
  • GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It ...
  • Quantifying gait impairment in individuals affected by Charcot-Marie-Tooth disease: the usefulness of gait profile score and gait variable score. [Journal Article]
  • DRDisabil Rehabil 2018 Oct 18; :1-6
  • Coghe G, Pau M, … Cocco E
  • CONCLUSIONS: Gait profile score can differentiate Charcot Marie Tooth from unaffected people and to quantify ambulation impairment, also identifying the joints more affected by the disease. Implications for rehabilitation Physiotherapy and orthotics constitute the sole possible clinical approach for Charcot Marie Tooth, but the clinical scales are scarcely effective for assessing the rehabilitative outcome. Synthetic measures are able to summarize Charcot Marie tooth kinematics in a single score, and Gait Profile Score is able to differentiate patients with Charcot Marie tooth from healthy controls. Gait Profile Score is related to clinical disability as measured by the Charcot Marie tooth neuropathy score.
  • An exploration of the experiences and utility of functional electrical stimulation for foot drop in people with multiple sclerosis. [Journal Article]
  • DRDisabil Rehabil 2018 Oct 09; :1-9
  • Renfrew ML, Flowers P, … Paul L
  • CONCLUSIONS: This study has contributed to our understanding of people with MS experiences of using the device and will help inform prescribing decisions and support the continued, appropriate use of FES over the longer term. Implications for Rehabilitation People with multiple sclerosis using functional electrical stimulation report benefits in many aspects of walking, improved psychological well-being and increased engagement in valued activities. A number of challenges impact on functional electrical stimulation use. Factors such as; a positive experience using the device, access to professional help, the influence of others, a strong sense of personal autonomy and an individual's ability to adapt, influence an individual's decision to continue using functional electrical stimulation. Clinicians prescribing functional electrical stimulation should be aware of these factors so that the right support and guidance can be provided to people with multiple sclerosis, thus improving outcomes and compliance over the long term.
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