Which of the statements below about the epidemiology of Dravet syndrome (DS) are correct? Select one of the options for each question, then submit your answers to see your score and the average score for everyone who has taken the quiz. Read more about DS epidemiology.
The combination of enzyme assay-targeted single-gene testing and a focused neuromuscular next-generation sequencing panel appears to be more effective for Pompe disease (PD) diagnosis than stand-alone new-generation sequencing (NGS), according to a recently published study in Molecular Genetics and Metabolism. The Lantern Project, a complementary diagnostic program for PD, combines enzymatic, biomarker, and genetic testing…
Precision medicine aims to provide customized and individualized medical treatment for LGS based on a patient’s unique characteristics.
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Leah Zelaya, a 2023 national ambassador of the Muscular Dystrophy Association.
Which of the statements below is most important regarding the diagnosis of Friedreich ataxia (FA)? Select one of the options for the question, then submit your answer to see your score and the average score for everyone who has taken the quiz. Read more about FA diagnosis.
An upcoming study will evaluate the pharmacokinetics and safety profile of risdiplam in patients with spinal muscular atrophy (SMA). Researchers will soon be initiating the recruiting process for this interventional study. This phase 4 clinical trial is part of an open-label study analyzing risdiplam. It will include approximately 10 participants. Read more about SMA therapies…
Lifestyle modifications appear to decrease debilitating symptoms of Pompe disease (PD), according to a study recently published in the Journal of Inherited Metabolic Disease. “We think exercise training as adjuvant therapy to [enzyme replacement therapy] cannot change the progression of the disease, especially in the classic infantile patients,” the authors wrote. This prospective interventional study included…
The study protocol of a randomized controlled trial assessing the feasibility and efficacy of respiratory muscle training in patients with spinal muscular atrophy (SMA) has been published in BMC Neurology. The trial will investigate the effect of respiratory muscle training in patients, who are 8 years of age and above, with respiratory muscle weakness. Read more…
Which of the statements below about the treatment of Friedreich ataxia (FA) are correct? Select one of the options for each question, then submit your answers to see your score and the average score for everyone who has taken the quiz. Read more about FA treatment.
The workflow of the Osaka spinal muscular atrophy (SMA) newborn screening (NBS) program is useful for babies with the disease, a new study published in Brain and Development confirmed. Currently, only around one-fifth of newborn babies are screened for SMA in the country, which the authors of the present study believe is insufficient. Read more…
