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.
Neuromuscular Diseases Content
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 […]
Presentation, diagnosis and management of SMA: Multidisciplinary perspectives
Watch leading experts discuss the diagnosis and management of spinal muscular atrophy (SMA), including causes of diagnostic delay, emerging treatment approaches and the crucial role of the multidisciplinary team in the management of this disease.
- Identify patients at risk of spinal muscular atrophy (SMA) through genetic screening and recognize early symptoms in the disease course
- Describe key trial and registry data (including antisense oligonucleotide and gene therapy) supporting improved treatment practice and outcomes in SMA patients
- Discuss roles within the multidisciplinary team (MDT) and impact of a standardized treatment approach across the MDT including utilization of guidelines and treatment innovations for SMA patients in clinical practic
Subcutaneous Immunoglobulin Therapy for Preventing Relapse and Maintaining Functional Ability in Chronic Inflammatory Demyelinating Polyneuropathy
US Neurology. 2019;15(Suppl. 2):3–10
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare but challenging neuroimmunologic peripheral nerve disease with a chronic progressive or relapsing-remitting course.1,2 Effective maintenance therapies are critical for managing the condition, maintaining a response, and preventing relapse.3 In CIDP, symptoms result from demyelination of the peripheral nerves.4 The etiology of the disease is as yet unknown […]
Advances in Therapeutic Plasma Exchange Technology and its Immunomodulatory Effect in Neuromuscular Diseases
European Neurological Review. 2019;14(2):61–3
Therapeutic plasma exchange (TPE) has been an accepted treatment for specific neurological disorders for several decades. For some medical professionals, it is seen as an effective treatment option alongside immunomodulatory therapies and other medicines. But its benefits for patients still need to be more widely recognised among medical professionals in many countries. Recent innovations in […]
Spinal Muscular Atrophy—Two Case Reports of Compound Heterozygosity
US Neurology. 2019:15(2):97–9 DOI: https://doi.org/10.17925/USN.2019.15.2.97
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder affecting approximately 1 in 10,000 births. It is characterized by predominantly proximal muscle weakness as a result of degeneration of anterior horn cells of the spinal cord.1 In most patients with SMA, the disease is caused by a homozygous deletion or mutation of the telomeric survival […]
Subcutaneous Immunoglobulin in Chronic Inflammatory Demyelinating Polyneuropathy – Neurologist, Nursing and Patient Perspectives
European Neurological Review. 2019:14(1):44–9. DOI: https://doi.org/10.17925/ENR.2019.14.1.44
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a peripheral neuropathy that can affect motor and/or sensory nerves, and lead to both loss of strength and altered sensation.1 Common first-line treatments for CIDP are immunoglobulins (Igs), corticosteroids and plasma exchange.2 Intravenous immunoglobulins (IVIgs) have been shown to be efficacious in maintaining or improving strength and disability in […]
Pamela Shaw, EAN 2019 – Moritz Romberg Lecture
Following her lecture at EAN 2019 in Oslo, Dr. Tom Jenkins, EAN eCommunciations board member and incoming editor-in-chief of EANpages, spoke to Prof. Dame Pamela Shaw following her Moritz Romberg Lecture: Translational Neuroscience to improve outcomes for motor neuron disease. Are we winning? at EAN 2019. Video produced by and shared with kind authorisation of […]
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