Orthopedists

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Novel Screening System May Promote Early Diagnosis of Pompe Disease, SMA, and DMD

A novel screening system that involves primary care clinics may promote the early diagnosis of neuromuscular diseases such as Pompe disease (PD), spinal muscular atrophy (SMA), and Duchenne muscular dystrophy (DMD), among others, according to a study recently published in Children. “This pilot study demonstrates the feasibility of conducting a universal screening for rare genetic…

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Intron Splicing Could Serve as a Therapeutic Approach for Spinal Muscular Atrophy

A targeted deletion technique may become a novel therapeutic approach for spinal muscular atrophy (SMA), according to a study recently published in the International Journal of Molecular Sciences. “Thus, this is the first study to demonstrate that the targeted-deletion of [intronic splicing silencer-N1 (ISS-N1)] via [prime editing (PE)] for restoring [full-length survival motor neuron (FL-SMN) messenger…

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Parents of Children With SMA Report Unmet Needs

Researchers found that parents of children and adolescents diagnosed with spinal muscular atrophy (SMA) experience a number of psychological stressors, as published in the Orphanet Journal of Rare Diseases. SMA is a rare disease that causes progressive muscle wasting and weakness. It is also a major genetic cause of death among neonates. There are 2…

ultrasound test

Muscle Ultrasound Detects Fasciculations in Late-Onset SMA

Researchers assessed the accuracy of 3 different methods to detect muscle fasciculations in spinal muscular atrophy (SMA) and found muscle ultrasound (MUS) to have the greatest accuracy in distinguishing SMA from other genetic muscle diseases, as published in Neuromuscular Disorders. They employed physical examination, MUS, and electromyography (EMG) to detect muscular fasciculations. “This study aimed…

Ketogenic Diet Exacerbates Cardiomyopathy in DMD Model

A medium-chain triglyceride-containing ketogenic diet (MCTKD) exacerbates cardiomyopathy in a CRISPR/Cas9 gene-edited rat model for Duchenne muscular dystrophy (DMD), according to a new study published in Scientific Reports. The results come as a follow-up from a group that had previously reported that MCTKD improved skeletal muscle function in the same rat model. Compared to rats…

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