Fitness and walking outcomes following aerobic and lower extremity strength training in facioscapulohumeral dystrophy: a case series.

Facioscapulohumeral muscular dystrophy (FSHD) is a common form of adult muscular dystrophy often resulting also in cardiorespiratory deconditioning and weakness of the lower limbs. Although previous studies examined outcomes of interventions aimed at improving either cardiorespiratory fitness or muscle strength, the potential benefits of a rehabilitation program targeting both remain unexplored. Thus, the aim of this study was to evaluate changes following participation in a rehabilitation program combining aerobic and strength exercises. We conducted a retrospective analysis of 10 subjects with FSHD who participated in our rehabilitation program during 2018 and 2019. Each of the 20 sessions consisted of aerobic training on a cycloergometer and a moderate lower limb strength exercises on an isokinetic machine in combination with conventional therapy. The primary outcomes were walking speed, aerobic performance and isokinetic strength of the knee extensors and flexors. The secondary outcomes were fatigue, insomnia. VO2max and walking speed increased significantly by 2.125 ml·kg-1·min-1 [95% confidence interval (CI): 0.75-3.62, P = 0.022] and 0.28 m/s (95% CI: 0.16-0.4, P = 0.002), respectively. The effect size was small for V02max (Hedge's g, 0.44; 95% CI: -0.5 to 1.37) and large for walking speed (Hedge's g, 0.99; 95% CI: 0.06-1.92). The knee flexor strength significantly increased at rehabilitation discharge (repeated measures analysis of variance P = 0.004). Positive changes in fatigue and insomnia were also observed. Our preliminary results provide evidence that a relatively short course of a comprehensive rehabilitation program targeting both cardiorespiratory fitness and knee muscle strength can be beneficial for people with FSHD, which warrants further prospective studies.

Orthopaedic shoes along with physical therapy was effective in Charcot-Marie-Tooth patient over 10 years.

BACKGROUND: The aim was to investigate the effectiveness of custom-made orthopaedic shoes (derby shoes) along with physiotherapy (twice a week) on a person with Charcot-Marie-Tooth over a period of 10 years. CASE DESCRIPTION AND METHODS: A 66-year-old woman with Charcot-Marie-Tooth disease, who did not have other health conditions, complained of pain and frequent falls. Physical examination, including ankle, knee and hip muscle strength; sensory evaluation of foot and joint range of motion; self-reported assessment of pain, frequency of falls and sprains; and gait analyses, including spatial and temporal parameters and motion analyses, were performed in 2001, 2007 and 2011. FINDINGS AND OUTCOMES: During the 10 years of follow-up, the physical examination parameters had stabilized since 2001; falls, sprains and walking distance had improved as compared to 2000; pain had alleviated since 2001 and gait parameters had improved up to 2007 and stabilized between 2007 and 2011. CONCLUSION: Bracing with orthopaedic shoes along with physical therapy was effective in treating pain, improving the gait and enhancing the walking distance (>500 m) without assistive device in a person with Charcot-Marie-Tooth disease. CLINICAL RELEVANCE: Orthopaedic shoes along with physical therapy can be a good option for treating Charcot-Marie-Tooth associated pain, foot drop, falls and sprains, improving the gait abnormalities and also increasing the walking distance.

Disrupting the right prefrontal cortex alters moral judgement.

Humans daily face social situations involving conflicts between competing moral decision. Despite a substantial amount of studies published over the past 10 years, the respective role of emotions and reason, their possible interaction, and their behavioural expression during moral evaluation remains an unresolved issue. A dualistic approach to moral evaluation proposes that the right dorsolateral prefrontal cortex (rDLPFc) controls emotional impulses. However, recent findings raise the possibility that the right DLPFc processes emotional information during moral decision making. We used repetitive transcranial magnetic stimulation (rTMS) to transiently disrupt rDLPFc activity before measuring decision making in the context of moral dilemmas. Results reveal an increase of the probability of utilitarian responses during objective evaluation of moral dilemmas in the rTMS group (compared to a SHAM one). This suggests that the right DLPFc function not only participates to a rational cognitive control process, but also integrates emotions generated by contextual information appraisal, which are decisive for response selection in moral judgements.

Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.

We describe 7 transplanted heart recipients from a single family with limb-girdle muscular dystrophy type 1B linked to a mutation of the LMNA gene in the splice donor site of the exon 9 (IVS 9+1:g>a). These patients did not display higher early postoperative or late complications than other heart transplant recipients at a mean follow-up of 8 years (range 1-17 years). Noticeably, there was no case of rhabdomyolysis and skeletal muscle symptoms were not markedly impaired.

[From Morvan's disease to potassium channelopathies]. / De la maladie de Morvan aux canalopathies potassiques.

The term Morvan's disease, first coined in 1890, is still in use, although the generic term neuromyotonia--which is not exempt from criticism--has largely superseded it. Symptoms and signs are variable, ranging from benign painful fasciculations, pseudomyotonic cases, rigid forms, cases in which central nervous system features are also present (with, in addition to nerve hyperexcitability, agitation, confusion, delirium, insomnia, hyperhidrosis and tachycardia). A distal peripheral motor nerve is the origin of nerve hyperexcitability. There is growing evidence that autoimmunity is involved in the pathogenesis of many cases. Antibodies to voltage-gated potassium channels are detected in the serum of many patients with peripheral nerve hyperexcitability. Other cases are probably genetic. Inherited disorders are related to episodic dominant ataxia type 1, with the same mutation of a gene coding for potassium channel subunit Kv 1-1. Many inappropriate or non specific names are used to refer to peripheral nerve hyperexcitability. Isaacs syndrome, voltage-gated potassium channelopathy, or Morvan's syndrome are suggested.