Understanding Bone Disease Associated With Lysosomal Acid Lipase Deficiency
Bone pathology can occur as a result of lysosomal storage diseases such as lysosomal acid lipase deficiency and Gaucher disease.
Orthopedists
T1 Mapping as a Quantitative Biomarker of Disease Severity in DMD
In patients with Duchenne muscular dystrophy (DMD), T1 mapping of the pelvic and thigh muscles can be used as a quantitative biomarker for disease involvement, as well as to evaluate disease severity and motor function. A prospective cohort study on the topic was conducted among a group of Chinese patients with DMD. Results of the…
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…
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…
The Relationship Between SMA, Adiposity, and Fatty Acid Metabolism Defects
Spinal muscular atrophy has been linked with increased adiposity and fatty acid oxidation defects in patients with the disease.
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…
Moxifloxacin Increases SMN Survival in SMA Cells
A new study has confirmed that moxifloxacin, a fluoroquinolone antibiotic, can increase the survival of motor neuron (SMN) protein levels in human cells and an animal model of spinal muscular atrophy (SMA). The study, published in Cellular and Molecular Life Sciences, also showed that daily injections of moxifloxacin in a murine model lead to improved…
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…
From Across the Globe: A Dialogue on Living With Pompe
Treatment for Pompe disease can vary across the globe. Sharing experiences and tips among patients is good medicine.
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