SLC25A46 is a mitochondrial protein involved in mitochondrial dynamics. Recently, bi-allelic variants have been identified as a pathogenic cause in a spectrum of neurological syndromes. We report a novel homozygous SLC25A46 variant in two siblings, originating from Iraq. Both presented with optic atrophy and varying neurological symptoms. The neurological examination and nerve conduction studies were consistent with sensorimotor polyneuropathy, one having mild polyneuropathy and the other pronounced polyneuropathy. The cases illustrate the disease spectrum and provide substantial information to the knowledge of polyneuropathy caused by SLC25A46 variants. It further highlights the diagnostic potentials of whole exome sequencing which can improve future understanding of disease mechanisms.
Introduction: Polyneuropathy (PNP) is a chronic progressive disease that over time can lead to damage of sensory, motor and/or autonomic peripheral nerves. Symptoms vary from predominantly sensory to severe sensorimotor affection both proximally and distally. This can result in considerable functional impairments that affect activities of daily living. In other neurological patients, strength training has shown to improve strength and functional outcomes. Since medical treatment only exists for very few percentages of the underlying causes it is obvious to consider if strength training could be a potential treatment for functional impairments. To date little is known on the effect of strength training in patients with PNP.Aim: The aim of this scoping review was to summarize research on strength training and outcomes on physical function in patients with PNP.Methods: We systematically searched five data bases; Pubmed, Embase, Cinahl, Cochrane library and Web of science. Studies on strength training (load ≥70% of 1RM) in patients with PNP were included. The search was carried out in November 2022.Results: 362 articles were screened by title and abstract, 101 articles were full text screened. Eight studies were included. Patients with Charcot-Marie-Tooth (CMT), chronic inflammatory polyneuropathy (CIDP) and diabetic polyneuropathy (DPN) were represented in the studies (five RCTs, two case-series, and one cross-over trial). The methodological quality ranged from fair-poor in seven studies, one study reached good quality. Results from the studies indicated that strength training in CMT, CIDP and DPN may improve strength. However, various outcomes were used to evaluate strength training, so direct comparisons were difficult.Discussion: In this scoping review we summarized research on strength training and outcomes evaluated in interventions in patients with PNP. Eight studies were included, they indicated that strength training may be beneficial for patients with PNP. However, due to low methodological strength of most studies a recommendation for patients with PNP cannot be made. Thus, the low number of studies with relatively low quality, where various functional outcomes were used, underscores the importance of future studies to evaluate the effect of strength training on relevant functional outcomes and strength in patients with PNP.
Background Myositis is a group of inflammatory skeletal muscle diseases that in some cases may be linked to vaccines.3 Case reports of new-onset myositis and other autoimmune events have previously been reported after administration of the COVID-19 vaccine. 4–13 Furthermore, three large surveys have described patients with a self-reported flare of myositis following COVID-19 vaccination 14–16 To our knowledge, no cases of flares of myositis causing isolated neck extensor myopathy (INEM) have previously been reported. Case presentation A female known with stable myositis causing isolated neck extensor myopathy (INEM) with minor sequela developed severe weakness of the extensor muscle of the neck three weeks following the Pfizer-BioNTech COVID-19 Vaccine. Until vaccine administration, the patient exhibited a good response to immunosuppressants (prednisolone followed by rituximab). On clinical examination, she had a forward drop of the head and neck extensor muscle strength was 3/5 on the MRC scale. She was initially treated with prednisone and a course of rituximab with no clinical improvement. Subsequently, she was treated with intravenous immunoglobulins (IVIG). Within two weeks neck extensor weakness improved. She no longer had a head drop and neck extensor muscle strength was 4/5 on the MRC scale. The patient had a flare of myositis following immunization. The clinical course suggests that the vaccine may have triggered the flare, which could not be stabilized with previously effective treatment. Conclusions The time period between the COVID-19 vaccine and the exacerbation of myositis causing INEM suggests a link between the vaccine and the flare. The possible need for repeated vaccine boosters to maintain immunity against severe COVID-19 disease highlights the importance of acquiring more information on COVID-19 vaccine reactions in patients with pre-existing autoimmunity and on effective treatments vaccine related flares. Thus, clinicians should be aware of and report possible flares of autoimmune diseases following the vaccine. Nonetheless, the benefits of the COVID-19 vaccine outweigh the small risk of a myositis flare.
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