AANEM Education News Express

AANEM News Express

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

This study in Neuron identified gain of toxicity as a main pathogenesis of GGGGCC-expanded C9ORF72 for ALS/FTD, and also proved the feasibility and effectiveness of antisense oligonucleotides-mediated therapy. 

Idebenone Reduces Respiratory Complications In Patients with Duchenne Muscular Dystrophy

This study in Neuromuscular Disorders reports the effects of Idebenone in patients with Duchenne Muscular Dystrophy.

Science News: Identifying who will benefit from NIV in ALS

This retrospective study in the Journal of Neurology, Neurosurgery & Psychiatry bolsters the evidence to support non-invasive ventilation (NIV) prescription in patients with ALS.

Modulating Myosin Restores Muscle Function in a Mouse Model of Nemaline Myopathy

This study in the Annals of Neurology demonstrated increased myofiber size and force generation in myocytes of ACTA1 transgenic mice injected with the gene encoding the MyLC1a/emb isoform.

AANEM Launches Its Centennial Podcast

The AANEM has reached a major milestone—the recording of its centennial podcast! Nerve and Muscle Junction podcasts offer discourse on recent publications in NM and EDX medicine literature, featuring interviews with the authors and other experts. 

Guideline Offers Direction in Genetic Testing for Certain Types of Muscular Dystrophy

A new
guideline from the AANEM and American Academy of Neurology  recommends guidance on how doctors should evaluate the full picture in order to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy.

Dystrophinopathy Diagnosis: Skin Biopsy, an Emerging Novel Tool

In this study, 119 patients (111 boys and 8 girls) with suspected muscular dystrophy underwent both a skin biopsy (from the anterior thigh) and a gold standard confirmatory test. 

Backward Walking Therapy for Diabetic Peripheral Neuropathy

Diabetic peripheral neuropathy is a common and costly condition, often leading to significant morbidity, including pain and foot ulcerations. A new study investigates the use of backward walking therapy as a treatment tool for patients with diabetic peripheral neuropathy.

Early Investigation of Novel ALS Treatment

A new learning phase study investigates a novel potential treatment for amyotrophic lateral sclerosis (ALS), the antibody Ozanezumab. It appears to be reasonably safe and worth proceeding with additional study.

Clinical Interpretation and Implications of Whole-Genome Sequencing

This JAMA article raises several key concerns about the NM physician’s ability to support the costs and effort required for whole-genome sequencing.