- According to recent statistics from the United Nations High Commissioner for Refugees ( https://www.unhcr.org/figures-at-a-glance.html ), there are >25 million refugees worldwide which represents the highest levels of displacement on record. Many refugees from the Middle East, especially Syria and neighbouring countries, arrive in Europe. These countries are known to have relatively high rates of consanguinity leading to growing awareness of recessive movement disorders that frequently lack a positive family history and are usually caused by biallelic mutations.
- Neurological disorders comprise a large group of clinically and genetically heterogeneous disorders, many of which have a genetic cause. In addition to a detailed neurological examination, exome sequencing is being increasingly used as a complementary diagnostic tool to identify the underlying genetic cause in patients with unclear, supposedly genetically determined disorders.
- A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia.
- Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus.
- The diagnosis of psychogenic paroxysmal movement disorders (PPMD) can be challenging, in particular their distinction from the primary paroxysmal dyskinesias (PxD) remains difficult.
- The pathophysiology of primary focal dystonia remains insufficiently understood, but may be explained by a ‘double-lesion’ model, in which a particular trigger on top of an intrinsic susceptibility due to a certain genetic predisposition can induce dystonia.