Rare Diseases
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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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