An Introduction to Neuromuscular Diseases
Neuromuscular diseases, characterized by muscle weakness, encompass a broad range of conditions that impair the function of voluntary muscles e.g. amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), myasthenia gravis and spinal muscular atrophy (SMA). The treatment landscape for neuromuscular diseases has seen numerous developments. Patients with SMA have had access to a range of new therapies including novel SMN-targeted treatments, antisense oligonucleotides and virus-mediated gene therapy. Likewise for patients with MS, with the introduction of new disease-modifying agents.
Browse video highlights and short articles from the conference hub, providing insights into the latest updates from major conferences and peer-reviewed articles from the journal portfolio. This is complimented by a range of educational activities from our expert faculty, with patient outcomes at the forefront.
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Neuromuscular Diseases Content
Erratum to: Neuropathy Associated with Hereditary Transthyretin Amyloidosis—Diagnosis and Management
touchREVIEWS in Neurology. 2020;17(1): [online only]
In the originally published article there was an error in Table 4. The efficacy of patisiran was incorrectly given as “mNIS+7: 80.9 versus 74.6 with placebo; Norfolk QOL-DN: 59.6 versuss 55.4”; this should read “mNIS+7: 34 points better than placebo; Norfolk QOL-DN: 21.1 points better than placebo”. The “Concerns” of patisiran should also read “Local […]
Tahseen Mozaffar: PROPEL Study Results
TouchNEUROLOGY caught up with Tahseen Mozaffar (University California, Irvine, CA, USA) to discuss the results from the PROPEL study (NCT03729362) investigating the use of AT-GAA for the treatment of late-onset Pompe disease. Questions: Could you tell us a little about late onset Pompe disease and the unmet needs in its treatment? (0:15) What is AT-GAA […]
Taking the next steps to improve patient outcomes in SMA: Early diagnosis and treatment
Learn more about the early diagnosis and treatment of spinal muscular atrophy (SMA) in this discussion between three internationally renowned experts. For subtitles in Spanish and Brazilian Portuguese, please click [CC] on the video player below.
- Recall the outcomes associated with early treatment initiation for patients with SMA
- Discuss strategies for diagnosing SMA as early as possible
- Describe the latest research findings for biomarkers in SMA
Wound Botulism in a Drug User—A Case Report and a Review of Botulism
US Neurology. 2020;16(2):116–9 DOI: https://doi.org/10.17925/USN.2020.16.2.116
Botulism is an extremely rare paralytic illness caused by neurotoxins produced by the bacterium Clostridium botulinum.1 While much less common, botulism can result from infection by C. butyricum and C. baratii as well.1 Found in soils and sediments worldwide, C. botulinum is a strictly anaerobic, Gram-positive, spore-forming bacterium that produces botulinum neurotoxins (BoNTs).2 There are currently eight known botulinum toxin serotypes, which are designated by […]
A Retrospective Review to Evaluate the Demographics and Management Profile of Patients with Amyotrophic Lateral Sclerosis Attending a Multidisciplinary Clinic
US Neurology. 2020;16(2):110–5 DOI: https://doi.org/10.17925/USN.2020.16.2.110
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that displays heterogeneous age of onset, symptoms, and progression.1,2 The disease presents clinically with upper and lower motor neuron features.3 There is no definitive test or assay that can be used to diagnose ALS, so the diagnosis is reached by ruling out other diseases that mimic the condition […]
Neuropathy Associated with Hereditary Transthyretin Amyloidosis—Diagnosis and Management
US Neurology. 2020;16(2):103–9 DOI: https://doi.org/10.17925/USN.2020.16.2.103
Hereditary transthyretin amyloidosis (hATTR) is a progressive life-threatening disease that typically presents as progressive sensorimotor polyneuropathy, restrictive cardiomyopathy, or a combination of both.1 Patients with hATTR-associated polyneuropathy (hATTR-PN) typically require assistance walking after 5–6 years, and die within 7–10 years from the onset of neuropathy.2 However, clinical manifestations of amyloidosis can affect other organs as well, including […]
Porphyria-induced Recurrent Quadriplegia Misdiagnosed as Guillain–Barré Syndrome
US Neurology. 2020;16(1):66–9 DOI: https://doi.org/10.17925/USN.2020.16.1.66
Acute hepatic porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Acute intermittent porphyria is the most common type and has the most severe presentation.1 Acute episodes can be triggered by surgery, certain drugs, pregnancy, menstruation, infection, or fasting.1 Guillain–Barré syndrome is characterized by rapidly evolving ascending weakness, mild […]
Marianne de Visser, EAN 2020 – Pregnancy and Neuromuscular Disorders
Our editorial board member and EAN Secretary General, Marianne de Visser (Academic Medical Centre, Amsterdam, The Netherlands), shares her expert insight into pregnancy and neuromuscular disorders. Questions 1. How does pregnancy affect the symptoms of neuromuscular disorders? (0:05) 2. What are the implications of neuromuscular disorders and their treatments for the development of the fetus […]
Myasthenia Gravis – Optimal Treatment in Severe Disease
European Neurological Review. 2019;14(2):81–5
Myasthenia gravis (MG) leads to muscle weakness, which increases with repetitive use of muscles; in the morning, many patients are symptom-free.1,2 Diplopia, ptosis and weakness in other muscles innervated by cranial nerves, are typical. The muscle weakness is, in most patients, generalised with weakness also in the extremities, and sometimes in respiratory muscles. Muscle weakness […]
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