APMP - Associação Phelan-McDermid Portugal

The Phelan-McDermid Association Portugal - APMP is an Association of families for families. We gather and disseminate knowledge about Phelan-McDermid syndrome within medical and scientific communities, schools, and society in general. We work with international experts to provide the latest and most accurate information about the disease, offering support to families and giving a voice to affected individuals and their families.

With a prevalence of 1:15,000, it is often referred to as the genetic cause of 1% of PEA cases. 

This rare syndrome is part of the universe of Neurodevelopmental Disorders of genetic origin, conditions that, despite their profound impact on the lives of those who experience them, remain widely invisible to the eyes of society. Autism Spectrum Disorder, one of the most common manifestations within this group of diseases, is often the only recognizable face of a broader and more complex reality. 
There are numerous rare diseases that are not immediately identifiable, the so-called invisible diseases. These are conditions that do not announce themselves at first glance, escape diagnosis for years, and live in the shadow of ignorance, making them even less understood by society. 

Within NDDs, PMS has one of the populations most involved in research, with a registry of 4,000 individuals worldwide, consolidated natural history studies spanning over 10 years. It is part of the Developmental Synaptopathies Consortium and has a research-promoting association, CureSHANK, as well as a European Research Consortium on PMS, EPMSRC. It provides a free animal model for researchers and several annual grants. 

If your research focus is on synapses, reach out to us: info@phelan-mcdermid.pt