Recognize a rare neurological diseases
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.
Congenital analgesia, according to the Research Institute for Rare Disorders is a disease that is present from birth, marked by indifference to pain, even in extreme pain stimuli and analgesia (abolishing sensitivity to pain). Patients with this disease can distinguish temperature differences, for example. One of the major problems suffered by these patients is that they can submit lacerations or injuries which are not aware, or that they even have inflicted the self-destructive purposes.
According to the neurologist Juan Carlos Martinez was called for rare diseases have a prevalence below one case among 50,000 people and makes a qualification, contrary to what one might think, “the tics are not rare diseases that are common in children “and continues,” and complex tics Tourrette syndrome are rare diseases, but unknown. Tourrette syndrome is associated with attention problems in children and school failure. We now know that a relationship exists between this and the hyperactivity syndrome. ” The good news is that according to the doctor “can be diagnosed and is treatable.”
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.
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[...] Spanish Federation for Rare Diseases collects on its website a list of rare diseases, although the most comprehensive and updated [...]
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