Sergio Olivera giron

A Osteogénese Imperfeita (OI) é um grupo de doenças hereditárias responsáveis por graus variados de fragilidade óssea. Um traumatismo minor é suficiente para causar fracturas e deformações ósseas. Geralmente é utilizada uma classificação em 5 tipos. A OI é causada por mutações nos genes COL1A1 ou COL1A2. A terapia com Pamidronato na infância é o tratamento mais extensamente estudado, tendo-se provado benéfico.

We are a non-profit association consisting only of 28 people affected by Nemaline Myopathy and their families, distributed throughout Spain. MN is a rare neuromuscular genetic disease (1:50,000 births) without a cure and treatment, with almost non-existent study. We have managed to launch a research project. Would you help us improve the future of our beloved ones? We'll be greatly grateful! www.yonemalinica.es

AHUCE Foundation (www.fundacionahuce.org) works to improve the quality of life of people with Osteogenesis Imperfecta (OI) through research. OI is a congenital pathology characterized by an inadequate formation of bone tissue. People's bones are very fragile. There are other manifestations, such as short stature, hyperlaxity, respiratory problems, cardiovascular problems, weak musculature, hearing loss, vision problems, scoliosis and chronic pain.