1. KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset
- Author
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Micol Avenali, Giuseppe Cosentino, Simone Gana, Enza Maria Valente, Sebastiano Arceri, Massimiliano Todisco, Edoardo Errichiello, and Enrico Alfonsi
- Subjects
Male ,0301 basic medicine ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Blepharospasm ,Mutation, Missense ,Late onset ,Vocal Cords ,Spasmodic dysphonia ,03 medical and health sciences ,0302 clinical medicine ,SGCE ,Tremor ,otorhinolaryngologic diseases ,medicine ,Humans ,Age of Onset ,Family history ,Adaptor Proteins, Signal Transducing ,Dystonia ,Electromyography ,business.industry ,Vocal tremor ,Syndrome ,Middle Aged ,Dysphonia ,medicine.disease ,Dermatology ,nervous system diseases ,030104 developmental biology ,Neurology ,Dystonic Disorders ,Neurology (clinical) ,Geriatrics and Gerontology ,medicine.symptom ,business ,Myoclonus ,030217 neurology & neurosurgery - Abstract
Introduction Myoclonus-dystonia is a rare syndrome typically occurring during childhood or adolescence, mainly due to SGCE pathogenic variants. Early-onset, atypical presentations of myoclonus-dystonia have recently been associated with KCTD17 variants. In these cases, laryngeal involvement was reported in the advanced stages. Methods We evaluated a 52-year-old man with myoclonus-dystonia and positive family history. He underwent an electromyographic investigation of vocal cord and forearm muscles. Whole-exome sequencing was also performed. Results Onset of symptoms was at 51 years with dysphonia and vocal tremor. Electromyography disclosed abductor spasmodic dysphonia and laryngeal myoclonus. The patient later developed writer's cramp, upper limb myoclonus, and blepharospasm. Botulinum toxin injection led to improvement of the writer's cramp and to a lesser extent of the spasmodic dysphonia. Genetic analysis identified a heterozygous missense variant in exon 2 of KCTD17: c.229 C > A (p.Leu77Ile), consistently predicted as damaging. Conclusions We suggest that the KCTD17-associated phenotypic spectrum may include late onset (even in late adulthood) as well as early and prominent laryngeal involvement.
- Published
- 2020
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