Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel Variant.

Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing.

Case Report: A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus.

Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations.

Background: Homozygous sequestomosome-1 gene mutations have been recently linked to neurodegeneration with dystonia, ataxia and gaze palsy. Seven affected families were identified thus far.

Objective: To describe four new cases with additional phenotypical features.

Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review.

Dermochondrocorneal Dystrophy (OMIM 221800) is a very rare disease first described by Francois in 1949. It is characterized by the appearance of skin nodules, osteochondral deformities, and corneal opacities during childhood. Only a few cases have been reported.