Up to 10,000 people in the UK could be living with ‘super rare’ neurological disorders, a major new study has revealed.
The report, published by University College London (UCL), reveals that Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD) may be “twice as common” as previously thought.
PSP is an uncommon progression condition which causes problems with balance, movement, vision and speech. The PSP Association estimates that there are around 4,000 people living with the condition in the UK, although the true figure could be much higher because symptoms can resemble other diseases, such as Parkinson’s.
CBD, also known as corticobasal syndrome (CBS), is another rare progressive condition affecting movement, speech, memory and swallowing.
Published in the peer-reviewed journal JAMA Neurology, the research uses data from MRI scanning, blood and cerebrospinal fluid samples, genetics, and clinical assessments to find ways of “tracking disease progression” and “improving diagnosis”.
According to the findings, super rare diseases, such as PSP and CBD, may have a correct diagnosis rate of just 50 per cent, with the remaining proportion being misdiagnosed or not yet presenting symptoms.
Commenting on the study, Professor Huw Morris said early diagnosis of both conditions is crucial for “effective treatment”.
“Surprisingly, recently described rarer presentations of PSP are as frequent as the classical form of PSP, indicating that the disease may be twice as common as previously thought,” he said.
“We hope that this improved understanding of the disease spectrum will lead to better, earlier diagnosis and ultimately to better treatments.”