Background Validation of biomarkers of upper motor neuron (UMN) impairment in amyotrophic lateral sclerosis (ALS) requires a reliable clinical assessment of UMN findings. The Penn Upper Motor Neuron Score© (PUMNS) is a standardized measure of UMN signs in ALS. Our aims were to evaluate its intra‐ and inter‐rater reliability, and to examine inter‐item reliability as a proxy for item relatedness and scale efficiency. Methods Study procedures were performed during routine clinic visits. We calculated intra and inter‐rater reliability using Pearson's correlation coefficient and inter‐item reliability using Cronbach's alpha. Results PUMNS had high intra and inter‐rater reliability. Total and sub‐score correlation coefficients were all ≥0.96. The inter‐item reliability indicated appropriate item relatedness with reasonable efficiency and sub‐score correlation coefficients between 0.68 and 0.85. Conclusions PUMNS is a reliable measure of UMN signs in ALS and would be a useful tool in validating imaging and laboratory biomarkers of UMN injury in ALS.

Neuromuscular disorders may present and progress differently in women than in men. During pregnancy, medication adjustment, hormonal effects, and other alterations in physiology may influence the manifestation of a variety of neuromuscular disorders. The expression of existing conditions may change; previously asymptomatic conditions may be unmasked, or entirely new conditions may develop. Additionally, neuromuscular disorders and their treatments may have implications for the fetus. Such factors must be carefully considered when counseling and treating pregnant women and those considering pregnancy. This article reviews considerations specific to women and issues surrounding pregnancy in disorders of the neuromuscular junction, focal neuropathies, and acquired and inherited disorders of the nerve and muscle.

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The use and utility of targeted gene panels for diagnosing the type of Charcot‐Marie‐Tooth have grown rapidly because commercial gene panels that contain most of the relevant genes are available and affordable for many patients. We used a targeted gene panel to analyze 175 patients who had an unexplained axonal polyneuropathy affecting large myelinated axons, 86 of whom reported a family history of neuropathy, and 89 of whom did not. In patients reporting a family history, the panel identified a pathogenic variant causing the neuropathy in six cases (7%); in patients not reporting a family history, the gene panel identified pathogenic variants causing neuropathy in two patients (2%). Interpretation in a tertiary referral setting, current gene panels identify the genetic cause of neuropathy in a small minority of patients who have an unexplained axonal neuropathy, even in those reporting a family history.

https://onlinelibrary.wiley.com/doi/10.1002/mus.26447/full.