The lack of treatment and delay in obtaining a diagnosis are the major problems faced by some 3 million Spanish patients to whom fate has allotted one of hundreds of diseases classified as ‘rare’. “There is a certain helplessness, not too many instruments to serve patients,” Martinez acknowledges.
The Spanish Federation for Rare Diseases collects on its website a list of rare diseases, although the most comprehensive and updated information there is to it is provided by the Research Institute for Rare Diseases. These are some of the most striking diseases, as defined by the scientific institute. The followers of ‘House’ can not find it so strange.
The primary visual agnosia is a rare neurological disease characterized by total or partial loss of the ability to visually identify and recognize people and objects known, although these can actually see.
The syndrome of Gilles de la Tuorette. It is characterized by multiple motor tics and one or more vocal tics.
The most common tics involve gestures, neck wrinkle, raising eyebrows, wink … Less often, shake hands or arms, stretching your fingers, sigh, yawn, burp … There have been reports of suicides by destructive effect of disease on society and the workplace.
Inability to recognize objects, to feel pain … truth is stranger than fiction
Tourette syndrome, Huntington’s disease, visual agnosia … are classified as rare neurological diseases because their incidence is very unusual. The film and literature sometimes come to us through his characters. For example, the Millennium trilogy, one of the ‘best sellers’ more popular in recent years, describes a character who suffers from congenital analgesia. In the movie ‘Best … impossible ‘Jack Nicholson suffers from obsessive compulsive disorder more common than it may seem and’ Gigolo ‘, one of the quotes of the protagonist suffers coprolalia (involuntary tendency to utter obscenities), one of the more unusual manifestations of Tourette syndrome. There is even a fascinating book ‘The Man Who Mistook His Wife for his hat’, written by neurologist and psychiatrist Oliver Sacks, who has become a bestseller thanks to explain some of these amazing amenity disorders. But is there really people suffering from these diseases?
“I’ve never seen anyone with congenital analgesia or know of any neurologist who has treated a case, but it exists. This is an extremely rare disease,” explains neurologist 20minutos.es Juan Carlos Martinez, coordinator of the Group Study of Movement Disorders of the Spanish Society of Neurology.