Foot surgery for adults with Charcot-Marie-Tooth disease.

People with Charcot-Marie-Tooth (CMT) disease often undergo foot and ankle surgery, as foot deformities are common and cause a degree of functional limitations impairing quality of life. Surgical approaches are variable and there are no evidence-based guidelines. A multidisciplinary approach involving neurology, physical therapy and orthopaedic surgery is ideal to provide guidance on when to refer for surgical opinion and when to intervene.

Video analysis of communication by physiotherapists and patients in video consultations: a qualitative study using conversation analysis.

Objectives: To investigate the challenges of doing physical examinations and exercises by video, and the communication strategies used by physiotherapists and patients to overcome them.

Design: A qualitative study of talk and social actions, examining the verbal and non-verbal communication practices used by patients and physiotherapists. Video consultations between physiotherapists and patients were video recorded using MS Teams, transcribed and analysed in detail using Conversation Analysis.

A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease.

Background And Purpose: Identifying vestibular causes of dizziness and unsteadiness in multi-sensory neurological disease can be challenging, with problems typically attributed to central or peripheral nerve involvement. Acknowledging vestibular dysfunction as part of the presentation provides an opportunity to access targeted vestibular rehabilitation, for which extensive evidence exists. A diagnostic framework was developed and validated to detect vestibular dysfunction, benign paroxysmal positional vertigo or vestibular migraine.

Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

Background And Objectives: Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of , is the most common hereditary peripheral neuropathy. For participants with CMT1A, few clinical trials have been performed; however, multiple therapies have reached an advanced stage of preclinical development. In preparation for imminent clinical trials in participants with CMT1A, we have produced a Clinical Outcome Assessment (COA), known as the CMT-Functional Outcome Measure (CMT-FOM), in accordance with the FDA Roadmap to Patient-Focused Outcome Measurement to capture the key clinical end point of function.

Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept study.

Introduction/aims: People with Charcot-Marie-Tooth Disease (CMT) frequently report problems with balance, which lead to an increased risk of falls. Evidence is emerging of training interventions to improve balance for people with CMT, but to date all have relied on clinic-based treatment and equipment. This proof-of-concept study explored whether a multi-modal program of proprioceptive rehabilitation and strength training can be delivered at home, to improve balance performance in people with CMT Type 1A.

Genetic Neuromuscular Disorders and Health Services Access, Utilization, and Needs in Zambia.

Background: Medical and rehabilitative advances increasingly transform management of rare genetic neuromuscular diseases (GNMDs) for children in the global north. Lack of information about GNMDs and related health care needs in sub-Saharan Africa threatens to widen pre-existing health disparities.

Methods: This is a cross-sectional study of probands enrolling in a study of GNMDs at the University Teaching Hospital in Lusaka, Zambia, a member of the International Consortium for Genomic Medicine in Neuromuscular Disease.

Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis.

Distal motor neuropathies (dHMN) are an heterogenous group of diseases characterized by progressive muscle weakness affecting predominantly the distal muscles of the lower and upper limbs. Our aim was to study the imaging features and pattern of muscle involvement in muscle magnetic resonance imaging (MRI) in dHMN patients of suspected genetic origin (dHMN). We conducted a retrospective study collecting clinical, genetic and muscle imaging data.

The views and experiences of people with myeloma referred for autologous stem cell transplantation, who declined to participate in a physiotherapist-led exercise trial: a qualitative study.

Background: Recruitment rates to rehabilitation trials are variable among cancer survivors, and deeper investigation into the causes for declining participation is needed. The aim of this study was to qualitatively explore the experiences of people with myeloma referred for autologous stem cell transplant who were approached to take part in a physiotherapist-led exercise trial but declined.

Methods: Participants were asked to participate in this qualitative study after declining to participate in a trial conducted at a UK tertiary cancer center.

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Neuromuscular diseases (NMDs) affect ∼15 million people globally. In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis.

Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders.

Background: Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy and many patients with Charcot-Marie-Tooth are women of childbearing age. Guidelines for managing pregnancy in Charcot-Marie-Tooth are lacking.

Aims: To assess the impact of pregnancy on Charcot-Marie-Tooth and how Charcot-Marie-Tooth affects pregnancy, delivery and postnatal care.

"What I wanted to do was build myself back up and prepare": qualitative findings from the PERCEPT trial of prehabilitation during autologous stem cell transplantation in myeloma.

Background: The addition of qualitative methodology to randomised controlled trials evaluating complex interventions allows better understanding of contextualised factors and their potential influence on trial delivery and outcomes, as well as opportunities for feedback on trial participation to improve future trial protocols. This study explored the experiences of participation in cancer rehabilitation research during active cancer treatment. Participants were people living with haematological cancer myeloma, undergoing autologous stem cell transplantation (ASCT) recruited to the PERCEPT myeloma pilot trial.

Incidence and risk factors for patellofemoral dislocation in adults with Charcot-Marie-Tooth disease: An observational study.

Background And Purpose: Patellofemoral (PF) dislocation is frequently encountered in clinical practice among people with Charcot-Marie-Tooth disease (CMT), but the frequency and risk factors for PF dislocation in adults with CMT are unknown. This study aimed to establish the incidence of PF dislocation in adults with CMT and to explore the risk factors associated with PF dislocation.

Methods: This is a cross-sectional study involving adults with a diagnosis of CMT, attending their outpatient clinics at a specialist neuromuscular centre in the United Kingdom.

Exercise prehabilitation for people with myeloma undergoing autologous stem cell transplantation: results from PERCEPT pilot randomised controlled trial.

Background: Autologous stem cell transplant (ASCT) is first line treatment for newly diagnosed patients with myeloma but often results in functional deficits and reduced quality of life (QOL). Physically active myeloma patients have better QOL, less fatigue and reduced morbidity. This trial aimed to investigate the feasibility of a physiotherapist-led exercise intervention delivered across the continuum of the myeloma ASCT pathway at a UK centre.

Protocol for a hybrid II study exploring the feasibility of delivering, evaluating, and implementing a self-management programme for people with neuromuscular diseases at a specialist neuromuscular centre.

Background: Self-management support (SMS) forms a central pillar in the management of long-term conditions. It is firmly aligned with UK health policy but there is a paucity of evidence exploring how it is enacted in the context of neuromuscular diseases (NMDs). Bridges is a SMS programme originally developed in stroke.

Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement.

The Revised Hammersmith Scale (RHS) for Spinal Muscular Atrophy (SMA) was designed as a psychometrically robust clinical outcome assessment to assess physical abilities of patients with type 2 and 3 SMA. The reliability properties of the RHS have not yet been reported. A prospective RHS reliability study was undertaken in a UK cohort of experienced neuromuscular paediatric Physiotherapists.

Proposing a Core Outcome Set for Physical Activity and Exercise Interventions in People With Rare Neurological Conditions.

Rare neurological conditions (RNCs) encompass a variety of diseases that differ in progression and symptoms but typically include muscle weakness, sensory and balance impairment and difficulty with coordinating voluntary movement. This can limit overall physical activity, so interventions to address this are recommended. The aim of this study was to agree a core outcome measurement set for physical activity interventions in people living with RNCs.

Exercise in myositis: What is important, the prescription or the person?

Our aim for this narrative review was to undertake a search of studies into exercise for people living with Idiopathic Inflammatory myopathies (IIM). We explored the strength of existing evidence with a particular consideration for the implications for people living with IIM and what is important to them. The search strategy from the 2021 Cochrane Physical Activity review in neuromuscular disease was used, and we selected articles that included people with IIM, including Dermatomyositis (DM), Inclusion Body Myositis (IBM), Immune Mediated Necrotising Myopathy (IMNM) [also known as necrotizing autoimmune myopathy (NAM)], and Polymyositis (PM).

Adaptation of the PERCEPT myeloma prehabilitation trial to virtual delivery: changes in response to the COVID-19 pandemic.

Introduction And Objective: Research activity was impacted by the novel COVID-19 pandemic, the PERCEPT myeloma trial was no exception. This pilot randomised trial delivered a face-to-face exercise intervention prior to and during autologous stem cell transplantation (ASCT) in myeloma patients, as a consequence of COVID-19 it required significant adaptions to continue. This brief communication describes how the previously published study protocol was adapted for virtual delivery.