Today, June 16, is the first Paramyloidosis Observance Day. This genetic disease is endemic in parts of Portugal and Sweden. It is thought to have originated in the north of Sweden and was then brought to Portugal during the Viking invasions. Today, it is endemic in some locations in the north of Portugal, with more than 1,000 affected people originating from about 500 families. It also presents a high incidence in Northern Sweden, where 1.5% of the population has the mutated gene. Seventy percent of the carriers of the mutated gene develop the illness.
“There are still many Portuguese who do not know what paramyloidosis is,” says Carlos Figueiras, the President of the Portuguese Association of Paramyloidosis. “We want to inform people that this indigenous disease was spread all over the world by the Portuguese during the Discoveries period, in the fifteenth century. Moreover, after the Portuguese mass emigration during the 1960s it was also brought to Central Europe.”
Paramyloidosis, also known as familial amyloid polyneuropathy, Corino de Andrade’s disease is an inherited neurodegenerative condition characterized by deposits of an abnormal protein called amyloid in various parts of the body. It can produce a range of symptoms from mild tingling and/or pins and needles to strong pain. Paramyloidosis usually starts in the toes and can spread further up the legs as and the hands can be involved as well. It is chronically debilitating, fatal and incurable.
Sources: Agência Lusa (in Portuguese), Portuguese Association of Paramyloidosis, Wikipedia, Wrong Diagnosis
>>Read more at CheckOrphan blog