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Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare, autoimmune neurological disorder in which peripheral nerve demyelination typically results in weakness, impaired limb sensation, fatigue and pain.1–4 CIDP may adversely affect activities of daily living, with a substantial impact on functional ...
The phase 3b SMART study has shown that 83% of paediatric patients with spinal muscular atrophy (SMA) weighing between 8.5 and 21 kg achieved significant motor improvements following treatment with intravenous onasemnogene abeparvovec in a recent article published in Neurology.
The European neuromuscular expert working group has published an updated European consensus on the use of gene therapy for the treatment of spinal muscular atrophy (SMA) .
Neuromyelitis optica spectrum disorder (NMOSD) is a rare inflammatory autoimmune disease of the central nervous system (CNS) with a worldwide distribution.1Â The first clinical description of NMOSD was made a century ago by Devic and Gault, who documented patients with ...
In the latest edition of touchREVIEWS in Neurology, we are pleased to present a collection of insightful articles that highlight the current landscape and future directions in neurological research and treatment. Firstly, Rajvinder Karda opens this issue with a compelling ...
Duchenne muscular dystrophy (DMD) is an X-linked recessive, progressive and universally fatal disease in the spectrum of dystrophinopathies,1Â with an incidence of 21.4 patients in 100,000 live male births worldwide.2,3 Historically, patients with DMD would lose ambulation by the age of 10 due ...
Case study Patient information A 42-year-old woman presented in the emergency department with acute onset whole-body myoclonic jerks for 1 day. On enquiry, the patient’s parents advised that she had a history of depression over the past 15 years. Intermittently, family ...
Highlights Limb–joint contractures may represent an important clinical clue of muscle dystrophies, as they limit the spectrum of the diagnosis assumptions. Limb–girdle muscular dystrophies phenotype can rarely be a clinical presentation of retractile myopathies, except for non-specific Achilles ...
Acute disseminated encephalomyelitis (ADEM), first characterized in 1931,1 is a non-specific clinical syndrome of polyfocal central nervous system (CNS) inflammatory demyelination; it is characterized by encephalopathy and large, poorly demarcated cerebral white matter lesions.2,3 Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD), ...
Over the past two decades, monoclonal antibodies targeting the surface antigen CD20 have emerged as highly effective disease-modifying therapies (DMTs) for multiple sclerosis (MS).1Â The major mechanism of action of these therapies is via B-cell depletion, as CD20 is expressed ...
Myasthenia gravis (MG) represents the major and most frequent primary disorder of the neuromuscular junction. Clinical hallmarks are variable and include exercise-induced weakness involving extraocular, bulbar, limb and/or axial muscles.1Â Respiratory involvement, characterized by orthopnoea or dyspnoea with exertion, ...
Posterior reversible encephalopathy syndrome (PRES) is a syndome characterized by a combination of clinical and radiological features.1–3 Its global incidence is unknown. It is underdiagnosed probably due to limited awareness. PRES presents with the rapid onset of neurological symptoms, such ...
Narcolepsy is a chronic clinical condition primarily characterized by excessive daytime sleepiness (EDS). This may be accompanied by cataplexy, which is a phenomenon of transient muscle weakness triggered by strong emotions, such as laughter, excitement, anger or grief. Narcolepsy is ...
The clinical use of cancer immunotherapy with immune checkpoint inhibitors (ICI) has transformed cancer management and added another effective treatment option for different types of malignancies.1–3 In 2018, the Nobel Prize for medicine and physiology was awarded for the discovery of ...
Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies against the myoneural junction, which lead to impaired neuromuscular transmission. These antibodies act at the post-synaptic membrane, commonly against the nicotinic acetylcholine receptor (AChR) but in some cases, antibodies to ...
Postpartum depression (PPD) is an important mental health problem that is associated with maternal distress and poor maternal–fetal bonding. The Diagnostic and Statistical Manual of Mental Disorders (DSM-5) now classifies PPD as major depressive disorder (MDD), with peripartum onset.1 ...
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