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.

Neuromyelitis optica spectrum disorder (NMOSD) is a rare inflammatory autoimmune disease of the central nervous system (CNS) with a worldwide distribution.1 The first clinical description of NMOSD was made a century ago by Devic and Gault, who documented patients with ...

Duchenne muscular dystrophy (DMD) is an X-linked recessive, progressive and universally fatal disease in the spectrum of dystrophinopathies,1 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 ...

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 ...

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).1 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.1 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 ...