Reliable and efficient scale to assess upper motor neuron disease burden in amyotrophic lateral sclerosis.

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.

Yield of next-generation neuropathy gene panels in axonal neuropathies.

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%).

Acute Manifestations of Neuromuscular Disease.

Neuromuscular emergencies may be defined as disorders or exacerbation of diseases of the peripheral nervous system that are rapidly progressive and potentially life-threatening. Such disorders can affect any level of the peripheral nervous system, from the muscle to the anterior horn cell. While their clinical manifestations may vary, severe morbidity and mortality is most frequently the result of neuromuscular respiratory failure.

Neuromuscular Disorders in Pregnancy.

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.