Researchers from hospitals and research centres around the world have discovered a new rare neurodevelopmental disease. The disease is caused by a defect in the ESAM gene, which manifests as disruption of the blood-brain barrier. Affected individuals suffer from profound global developmental delay/unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly and intracranial haemorrhage/brain calcifications.

Rare diseases pose a challenge for physicians. However, in recent years, two very important diagnostic support tools have taken hold: exome and genome analysis. These technologies make it possible to determine the cause in a considerable proportion (up to 40%) of undiagnosed patients, and more importantly, often with findings that allow therapeutic measures to be taken to tackle the disease.

Familial amyloid polyneuropathy, also called transthyretin-related hereditary amyloidosis, transthyretin amyloidosis abbreviated also as ATTR (hereditary form), or Corino de Andrade’s disease is a severe neurodegenerative genetic disease. It is rare, with an estimated 8,000 people affected worldwide. Foci of familial amyloid polyneuropathy The first cases were detected in northern Portugal in the 16th century. It was called “the foot disease”,

What is intellectual disability? Intellectual disability (ID) is the result of a disturbance in human development that appears before the age of 18. It is characterised by a significant limitation in intellectual functioning and adaptive behaviour. In other words, the concept encompasses people whose cognitive resources are often less than expected for their chronological age. What types of intellectual disabilities