Neurology Alert – September 1, 2020
September 1, 2020
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The results of this study indicate that first-line genome sequencing in pediatric patients with suspected genetic white matter disease is more diagnostically efficient, defined as higher diagnostic efficacy and shorter time to diagnosis, than current standard of care approaches.
Dermatomyositis is an autoimmune disorder of skeletal muscle associated with a variety of auto-antibodies and specific muscle pathology but it may not have a skin rash. Muscle pathology and antibody determinations are important for accurate diagnosis and treatment.
The neuromuscular syndromes caused by BSCL2 gene mutations may mimic several other disorders, including Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis.
Specific and objective measures of improvement after carpal tunnel decompression (i.e., electrodiagnostic testing, somatosensory function, and intraepidermal nerve fiber density) also correlated with upregulation of ADCYAP1/PACAP genes. These genes may be potential therapeutic targets in the future.