Design for Duchenne. Guidelines for Dwellings’ Construction or Renovation for Muscular Dystrophy—Affected Families

Dystrophin is a protein formed by 3685 amino acids which is present in muscle tissue. It is synthesized by a gene discovered in 1986 in the X chromosome. Dystrophin is an essential protein that stabilizes the muscle fibre’s cell membrane and it is assumed that its absence in individuals with progressive muscular dystrophy causes a failure of the membrane due to its own weakening. This leads to a ripple effect that ends with the muscle fibre’s death. The University of Ferrara’s Laboratory of Molecular Genetics within the Section of Medical Genetics, has been engaged for years in diagnostics and research around dystrophinopathies which are a group of inherited genetic diseases linked to chromosome X (thus affecting mainly males) that are due to heterogeneous mutations in the dystrophin gene. The latter is a very large and complex gene and its alterations are the basis of different clinical cases, spacing from Duchenne or Becker and the chromosome X-linked dilated cardiomyopathy, to some very mild or asymptomatic situations, often characterized by increased CK serum. The dystrophin gene contains the information necessary for the production of the dystrophin protein which is a fundamental component of the structure of skeletal and cardiac muscle fibres.

See Health Dictionary, University of Ferrara.

A disease is considered “rare” when it affects no more than 5 in 10,000 people. However, the low prevalence in the population does not mean low numbers in the affected population; indeed in Italy millions of people are affected by “rare” diseases while numbers spike up to tens of millions across Europe. The number of rare diseases known and diagnosed oscillates between 7000 and 8000.

Speaking of rare diseases as a whole and not as individual pathologies, allows to highlight and recognize common welfare issues and to plan for public health interventions that are targeted and yet not fragmented so as to serve groups with similar needs, all accounting for peculiarities and differences. When it comes to rare diseases, one must speak of the so-called “orphan drugs”. Drugs that, precisely because of the fragmentation of individual diseases, are struggling to meet the economic interests of pharmaceutical companies. See the Superior Institute for Rare Diseases.