Rare Diseases
An Introduction to Rare Diseases
Although the incidence of rare neurological diseases is by definition low, they have a considerable collective impact: according to recent estimates, nearly half of all rare diseases are neurological, and up to 90% of all paediatric rare diseases have a neurological component. The most common of these conditions fall into the following groups: cerebellar ataxias and hereditary spastic paraplegias; Huntington’s disease and other choreas; frontotemporal dementia; dystonia, paroxysmal disorders, and neurodegeneration with brain iron accumulation; leukoencephalopathies; neuromuscular diseases and atypical Parkinsonian syndromes. Advances in genomic technologies, including exome sequencing, have enabled rapid diagnosis of a number of rare neurological conditions. There have also been many advances in gene therapies, and this is an active are of clinical research.
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Leading experts share their perspectives on the most important therapeutic and treatment updates at AAN 2026 and discuss how these findings may shape the future of neurologic care At American Academy of Neurology (AAN) Annual Meeting, Chicago, IL, USA, April 18–22, 2026, major ...
Emerging data from AAN 2026 across neuroimmunology, epilepsy, neuromuscular disease, movement disorders and neuroinfectious disease highlighted the continued evolution of neurology toward more precise, personalized and mechanism-driven care. The American Academy of Neurology (AAN) Annual Meeting, Chicago, IL, USA, from April 18–22, 2026, ...
ESOC 2026 highlights: Blood pressure management, neuroprotection and widening inequalities shape stroke discussions in Maastricht #VoiceOfStroke [caption id="attachment_101685" align="alignright" width="300"] © European Stroke Organisation #VoiceOfStroke[/caption] At the 12th European Stroke Organisation Conference 2026, late-breaking clinical trial data and population-level analyses ...
New findings highlight the importance of functional antiviral immunity, beyond lymphocyte expansion alone, in progressive multifocal leukoencephalopathy. At American Academy of Neurology 2026, Dr Yair Mina (Staff Clinician, Experimental Immunotherapeutics Unit, National Institute of Neurological Disorders and Stroke (NINDS), Bethesda, MD, ...
Prof. Peter Hedera discusses the potential of tiomolibdate choline to improve neurologic outcomes and reduce deterioration risk in Wilson disease. Neurologic worsening remains one of the greatest treatment challenges in Wilson disease, where delayed diagnosis and paradoxical deterioration during therapy ...
The late-breaking science sessions at AAN Annual Meeting 2026, Chicago, IL, USA brought together a wide range of pivotal and practice-shaping data spanning rare disease, neuroimmunology, headache, epilepsy, neurodegeneration and neuromuscular medicine. Several presentations reported positive phase III findings, while others ...
In our inaugural touchNEUROLOGY Future Leaders 2025 campaign, we celebrate the next generation of neurologists, rising stars shaping the future of clinical practice, research, and education across neurological specialties.
Dravet Syndrome UK’s team participated in the 36th International Epilepsy Congress (IEC 2025) in Lisbon, joining clinicians, researchers, pharmaceutical developers and patient advocates focused on Dravet Syndrome and related epileptic encephalopathies. Several key themes emerged that signal progress towards disease-modification, more patient‑centred trials, and enhanced outcome measures beyond simple seizure counts.
As touchNEUROLOGY approaches 20 years of providing education for busy neurologists, we are looking to the future—and it certainly looks bright!
Physician burnout is at a critical point. In this episode, Nicky speaks with Dr Alfred Atanda about why so many physicians are burning out and what can be done to change the trend. From personal experience to system-wide solutions, Dr Atanda shares valuable insights on improving physician well-being and building a more effective healthcare culture.
Broadest approval to date in generalized myasthenia gravis The FDA approval of nipocalimab for generalized myasthenia gravis (gMG) introduces a targeted therapy within a validated class, offering the potential for durable disease control across the broadest patient population to date. ...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of upper and lower motor neurons that results in progressive motor impairment. ALS is the most common disease of motor neurons with an annual incidence of approximately 1.7–2.5 per 100,000 people. It is a ...
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