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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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. ...
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Myasthenia gravis (MG) is an autoimmune disorder where antibodies disrupt the neuromuscular junction, causing muscle weakness that worsens with activity. MG subgroups are based on muscle weakness location, age, antibody type, and thymus pathology, with some patients experiencing severe, treatment-resistant symptoms. Biomarkers can indicate prognosis. First-line treatments include pyridostigmine for symptomatic relief and immunosuppressants like prednisolone and azathioprine. Thymectomy is recommended for certain patients. Second-line treatments include mycophenolate, rituximab, and others, with new therapies like complement and FcRn inhibitors showing promise. Intravenous immunoglobulin and plasma exchange are used for acute exacerbations. Supportive therapy, including adapted exercise, is crucial. In refractory cases, comorbidities and diagnosis accuracy should be reconsidered.
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Dravet syndrome is a rare genetic disorder that affects approximately 1 in 15,700 individuals. It is one of the most severe epilepsy syndromes of early childhood, with high morbidity and mortality rates.1,2Â It is characterized by seizures that begin in infancy and ...
Our society partner, NORD (The National Organization for Rare Disorder) has planned several initiatives to support this year’s Rare Disease Day on 28 February. These activities are aimed at raising awareness about rare diseases and the challenges faced by people ...
Rare diseases can present numerous challenges for those living with these conditions and the healthcare professionals caring for them. In this interview we discuss some of these with Lisa Sarfaty, VP of Communication and Engagement for NORD (The National Organization ...
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, ...
Infection of the central nervous system (CNS) due to cytomegalovirus (CMV) is rare, as it typically occurrs in immunocompromised patients and rarely affects those who are immunocompetent.1 Brain infection – manifested by meningoencephalitis – is much more common than infection of the ...
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