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Title: Survey of the functional priorities in patients with disability due to neuromuscular disorders. Objective: This study attempts to determine the functional priorities for patients with neuromuscular disorders. Methods: A survey asking about functional priorities with respect to activities of daily living, ankle foot orthotic design, and assistive device design, was distributed to patients with neuromuscular disorders to assess the needs of patients from their perspectives. Descriptive statistics were used to analyse answers. Results: A total of 171 subjects with neuromuscular disorders responded to the questionnaire. Of the respondents with weakness in both the upper and lower extremities, 45% stated that if they had to choose between correction of one or the other, they would prefer that of their lower extremities. Activities that patients most frequently wanted to gain independence with were mobility and transfers (46%), followed by toilet use and hygiene (32%). The most popular control mechanism of an assistive device was voice activation (35%). Conclusion: This study assessed the functional priorities of those with neuromuscular disorders. Although such individuals can experience a range of weakness in the upper and/or lower extremities, common functional priorities were reported: independence with mobility, transfers, toilet use and hygiene. Knowledge of these priorities will help guide development of assistive devices that will restore function in the future. Neuromuscular Disorders • Neuromuscular disorders result in disabling weakness; there are few cures and many are unable to carry out activities of daily living. • Information that would be helpful in determining functional priorities is limited. • In a survey of 171 patients with neuromuscular disorders, functional priorities included mobility and transfers (46%), followed by toilet use and hygiene (32%). • Of the respondents with weakness in both the upper and lower extremities, 45% stated that if they had to choose between correction of one or the other, they would prefer that of their lower extremities. • If an assistive device were to be created to help those with neuromuscular disorders, the most popular control mechanism would be voice activation (35%). [ABSTRACT FROM AUTHOR]

Introduction: This study analyzes and describes atypical presentations of Charcot-Marie-Tooth disease type 4C (CMT4C).Methods: We present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2.Results: All patients manifested scoliosis, and nerve conduction study indicated results in the demyelinating range. All patients exhibited signs of motor impairment within the first years of life. We describe 2 or more different genetic diseases in the same patient, atypical presentations of CMT, and 3 new mutations in CMT4C patients.Discussion: A new era of unbiased genetic testing has led to this small case series of individuals with CMT4C and highlights the recognition of different genetic diseases in CMT4C patients for accurate diagnosis, genetic risk identification, and therapeutic intervention. The phenotype of CMT4C, in addition, appears to be enriched by a number of features unusual for the broad CMT category. Muscle Nerve 57: 749-755, 2018. [ABSTRACT FROM AUTHOR]

Objectives: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene ( NEFL )., Methods: Combined analysis of newly identified patients with NEFL -related CMT and all previously reported cases from the literature., Results: Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified. Combined data from these cases and 62 kindreds from the literature revealed four common mutations (P8R, P22S, N98S and E396K) and three mutational hotspots accounting for 37 (55%) and 50 (75%) kindreds, respectively. Eight patients had de novo mutations. Loss of large-myelinated fibres was a uniform feature in a total of 21 sural nerve biopsies and 'onion bulb' formations and/or thin myelin sheaths were observed in 14 (67%) of them. The neurophysiological phenotype was broad but most patients with E90K and N98S had upper limb motor conduction velocities <38 m/s. Age of onset was ≤3 years in 25 cases. Pyramidal tract signs were described in 13 patients and 7 patients were initially diagnosed with or tested for inherited ataxia. Patients with E90K and N98S frequently presented before age 3 years and developed hearing loss or other neurological features including ataxia and/or cerebellar atrophy on brain MRI., Conclusions: NEFL -related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical-genetic associations that may be helpful in the evaluation of NEFL sequence variants and the differential diagnosis with other forms of CMT., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)