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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Rare Diseases Content
Contemporary insights on the management of sickle cell disease: Focus on complications and recent advances in therapy
Three experts discuss the management of complications of sickle cell disease, as well as recent advances in therapy.
- Summarize the various manifestations and multiple complications of SCD
- Appraise the practical considerations for the multidisciplinary management of SCD complications
- Interpret the clinical data for established and recently approved therapies for SCD and apply them to clinical practice
Latest developments in neuromyelitis optica spectrum disorder: Diagnostics, treatments and patient-centred care
Three experts examine evidence-based approaches for early and accurate diagnosis, appropriate treatment selection and patient-centred care to mitigate the clinical burden of neuromyelitis optica spectrum disorder.
- Recall strategies that facilitate an early and accurate diagnosis of NMOSD
- Describe how evidence from clinical trials investigating current and emerging treatments for NMOSD informs clinical decision making
- Select individualized management plans for patients with NMOSD to reduce the patient-reported burden of symptoms
The Future of SCN1A Gene-targeting Research for the Treatment of Dravet Syndrome
touchREVIEWS in Neurology. 2023;19(2):Online ahead of journal publication
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.1,2 It is characterized by seizures that begin in infancy and can lead to intellectual disability, developmental delays and a range of other neurological problems.3 The SCN1A gene […]
Multidisciplinary insights on the symptoms, diagnosis and modern medical management of Duchenne muscular dystrophy
A multidisciplinary team and a patient advocate discuss the symptoms, diagnosis and modern medical management of Duchenne muscular dystrophy
- Recognize the signs and symptoms of Duchenne muscular dystrophy
- Discuss the diagnosis of Duchenne muscular dystrophy and the challenges associated with pre-symptomatic screening for the condition
- Describe the medical management of Duchenne muscular dystrophy and the importance of the multidisciplinary team
Lisa Sarfaty: Help support Rare Disease Day
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 living with these conditions. In this video, Lisa Sarfaty, NORD’s VP of Communication and Engagement, […]
Lisa Sarfaty: Exploring and addressing inequities in rare diseases
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 for Rare Disorders) and explore ways in which they could be tackled. Questions Could you […]
Improving outcomes for patients with tuberous sclerosis complex-associated seizures: Integrating new treatment options into existing care pathways
MDT specialists and a caregiver of a patient with tuberous sclerosis complex (TSC) discuss current and emerging management strategies for TSC-associated seizures.
- Discuss the burden of TSC for patients and caregivers, and explore how TSC-associated seizures are currently managed
- Assess existing and emerging treatment options for TSC-associated seizures including their impact on seizure prevention and delay in onset
- Evaluate to what extent current treatment challenges and knowledge gaps in TSC-associated seizures impact clinical practice
Severe Cytomegalovirus Encephalomyelitis and Polyradiculitis in the Immunocompetent: An Unusual Case of Critical Illness
touchREVIEWS in Neurology. 2022;18(2): 157-60 DOI: https://doi.org/10.17925/USN.2022.18.2.157
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 spinal cord or nerve roots.1 CMV infection of the spine has been almost exclusively reported as an inflammatory polyradiculitis […]
Francesco Saccà, EAN 2022: Improving quality of life for patients with generalized myasthenia gravis – ADAPT trial findings
The ADAPT trial (NCT03669588) supported US Food and Drug Administration approval of efgartigimod alfa-fcab in generalized myasthenia gravis. Dr Francesco Saccà (University of Naples Federico II, Naples, Italy) discussed the findings of the study, in terms of health-related quality-of-life outcomes. Questions: 1. What are the current challenges in managing cases of generalized myasthenia gravis? (00:14) […]
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