Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial evaluation, identification of common medical issues, and management options to establish a comprehensive, standardized care approach. We will also address clinical topics relevant to select leukodystrophies, such as gallbladder pathology and adrenal insufficiency. The recommendations within this review rely on existing studies and consensus opinions and underscore the need for future research on evidence-based outcomes to better treat the manifestations of this unique set of genetic disorders.

Background: Neuromuscular Electrical Stimulation (NMES) is an emerging assistive technology applied through surface or implanted electrodes to augment skeletal muscle contraction. NMES has the potential to improve function while reducing the neuromuscular impairments of spastic cerebral palsy (CP). This scoping review examines the application of NMES to augment lower extremity exercises for individuals with spastic CP and reports the effects of NMES on neuromuscular impairments and function in spastic CP, to provide a foundation of knowledge to guide research and development of more effective treatment.Methods: A literature review of Scopus, Medline, Embase, and CINAHL databases were searched from 2001 to 2 November 2021 with identified inclusion and exclusion criteria.Results: Out of 168 publications identified, 33 articles were included. Articles on three NMES applications were identified, including NMES-assisted strengthening, NMES-assisted gait, and NMES for spasticity reduction. NMES-assisted strengthening included the use of therapeutic exercises and cycling. NMES-assisted gait included the use of NMES to improve gait patterns. NMES-spasticity reduction included the use of transcutaneous electrical stimulation or NMES to decrease tone. Thirteen studies investigated NMES-assisted strengthening, eleven investigated therapeutic exercise and demonstrated significant improvements in muscle structure, strength, gross motor skills, walking speed, and functional mobility; three studies investigated NMES-assisted cycling and demonstrated improved gross motor skills and walking distance or speed. Eleven studies investigated NMES-assisted gait and demonstrated improved muscle structure, strength, selective motor control, gross motor skills, and gait mechanics. Seven studies investigated NMES for spasticity reduction, and five of the seven studies demonstrated reduced spasticity.Conclusion: A growing body of evidence supports the use of NMES-assisted strengthening, NMES-assisted gait, and NMES for spasticity reduction to improve functional mobility for individuals with spastic CP. Evidence for NMES to augment exercise in individuals with spastic CP remains limited. NMES protocols and parameters require further clarity to translate knowledge to clinicians. Future research should be completed to provide richer evidence to transition to more robust clinical practice.

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