Steinert’s Sons and Daugthers
The myotonic dystrophy type 1 (DM1) was described in 1909 by a German physician, Dr. Hans Steinert. This disease, also known as Steinert's disease, is the most common muscular dystrophy in adults and it has an incidence of 1 in 8000 in Italy. The number seems low but this datum is surely underscored because the patients could be a lot of more, both for the difficulty of the diagnosis (scarce knowledge of these pathologies from the physicians of family), surely both because the patients often don’t complain symptoms. It is a genetic disease, autosomal dominant, characterized by a progressive loss of strength caused by a degeneration of muscle cells (dystrophy) associated with muscular rigidity with difficulty in muscle relaxation (myotonia). The disease is multi-system for the involvement of different organs (heart, digestive system, respiratory and endocrine system, etc.). The clinical picture is characterized by loss of muscle mass, myotonia, cataracts, defects in the cardiac conduction system, endocrine abnormalities and cognitive deficits in congenital cases. There is a phenomenon of “genetic anticipation” that the onset tends to appear at an increasingly young generations in the same family. The evolution and prognosis are highly variable from the age of start and different from individual to individual. In late-onset symptoms are mild, occur in late decades and the prognosis is good. In the classic form the leading cause of early death is represented by cardiac arrest or severe arrythmia. The infantile form (congenital) presents a more severe clinical precedent with serious cognitive problems and a mortality of about 90% in the first months of life. It is a disease so little known and little recognizable that beetwen the onset of symptoms and a correct diagnosis on average pass seven years There are currently no treatments to halt or reverse the DM1 do.
Maria Antonietta, Giuseppe, Gabriella, Roberto and the little Giulia. The people portrayed are affected in a more or less serious from DM1. I decided to focus my project not on the clinical aspects but on any areas of the lives of these persons and those around them. For example how this disease affects the sentimental sphere, the possibility of become parents or to have a job. What are the tools that each of them use to have the "more normal" life. Maria Antonietta is assisted daily by her husband and in a sense her patology has strengthened their relationship. His brother Giuseppe is living with his mother who takes care of him, his dream is to find a woman and have a healthy relationship. Gabriella thinks that people with disabilities do not find love because only seek healty people. . Having little ability to move She knew by the internet Carmine, a man suffering from another neuromuscular disorder. After chatting for a long time, one day they met and they fell in love . Roberto that although the disease is still able to work but has been left by the woman of his life after discovering to be affected by the DM1. Finally Giulia whose parents are concerned about if she can have a normal life in the future also from the sentimental point of view. The big challenge is in science, finding the efficient drug to fight this disease. In parallel it is crucial to sensitize and inform. These people daily are looking for tools to live better but the society has the ability to understand and respond to their needs?
This work is also a need for a personal staff. My father is a neurologist and has dedicated his life to the study of neuromuscular diseases.
In recent years he set up the FMM (Fondazione Malattie Miotoniche) to support scientific research in neuromuscular diseases and in particular in myotonic dystrophies and to improve information and awareness in this field.
This work comes from the willingness to collaborate on a very important project of my father.