Search results for "Myokymia"

Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease

2015

Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variant…

Persistent Tonic Facial Contraction: A Local Brain-Stem Sign

1993

Impairment of facial motility associated with contralateral hemiparesis is characteristic of pontine lesions. In the Millard-Gubler and Foville syndromes, involvement of the facial nerve is nuclear or infranuclear, resulting in a peripheral-type palsy. Conditions of pontine origin showing hyperactivity of facial muscles are facial myokymia and Brissaud’s syndrome. Brissaud and Sicard [4] reported low-frequency phasic cramplike facial contractions and contralateral hemiparesis in inflammatory brain-stem processes.

Facial myokymia and contraction persisting 20 years: a case of pontine glioma.

1994

Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease

2021

Background and ObjectivesAnti-IgLON5 disease is a recently described neurologic disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and important but have not been characterized and are underreported. We describe the frequency and types of movement disorders in a series of consecutive patients with this disease.MethodsIn this retrospective, observational study, the presence and phenomenology of movement disorders were assessed with a standardized clinical questionnaire. Available videos were centrally reviewed by 3 experts in movement disorders.ResultsSeventy-two patients were included. In 41 (57%), the main reason for initial consult…