1. Early-onset oromandibular-laryngeal dystonia and Charlot gait
- Author
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Joana Ribeiro, Filipe Sobral, Fradique Moreira, Ana Morgadinho, Ana Brás, and Cristina Januário
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Spasmodic dysphonia ,Laryngeal Diseases ,03 medical and health sciences ,0302 clinical medicine ,otorhinolaryngologic diseases ,medicine ,Humans ,030212 general & internal medicine ,Gait ,Laryngeal dystonia ,Gait Disorders, Neurologic ,Early onset ,Dystonia ,business.industry ,Parkinsonism ,Histone-Lysine N-Methyltransferase ,medicine.disease ,Bulbar symptoms ,Phenotype ,nervous system diseases ,Dystonic Disorders ,Disease Progression ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
A 28-year-old man had spasmodic dysphonia due to focal oromandibular-laryngeal dystonia from the age of 6, evolving rostrocaudally into a particular gait dystonia resembling Charlie Chaplin's Charlot gait (video 1). Recently he developed a progressive worsening of bulbar symptoms and a severe dysarthrophonia. No pyramidal or parkinsonism signs were observed. No intellectual dysfunction was noted. Head MRI was normal. Secondary causes of dystonia were excluded. Dystonia next-generation sequencing panel (58 genes) was negative. The sequencing of KMT2B identified a heterozygous de novo variant c5198-4_5206del(p?)-intron24/exon25, classified as pathogenic. This case expands DYT-KMT2B's clinical phenotype due to early oromandibular-laryngeal involvement and atypical gait dystonia.1,2
- Published
- 2019