Rare Diseases
US Partner
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.
Our supporting partners do not constitute an endorsement of the content on this page.
