The Barraquer Foundation and research

21/11/2017

The Barraquer Foundation participates in a multi-centre study entitled “Characteristic findings in the anterior and posterior segment of patients diagnosed with Steinert disease”. The main researcher is Dr. Francisco Muñoz Negrete from the Ramon y Cajal University Hospital. Steinert disease is a muscular disease characterised by myotonic dystrophy and multi-organ damage that combined different degrees of muscular weakness, arrhythmia and/or heart-conduction disorders, cataracts, endocrine diseases, sleeping issues and baldness. Developing slowly and progressively, it usually occurs in adults and its prevalence is estimated at 1 in 20,000 inhabitants. Myotony is characterised by slow muscle relaxation after involuntary contraction. People with this condition may also have problems releasing objects from their hands or might face difficulty getting up from a certain seated position and walk in a clumsy, rigid way. Almost 100% of patients present with cataracts after the age of 40.