Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
Por:
Martins J, Darling A, Garrido C, Espinós C, Martí MJ, Dueñas BP and Temudo T
Publicada:
1 nov 2019
Ahead of Print:
25 oct 2019
Resumen:
BACKGROUND: Sensory tricks are a classic hallmark of primary dystonia and result in specific maneuvers that temporarily improve dystonic posture or movement. Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurological disorder that courses with prominent dystonia. Although previously described, sensory tricks are considered to be rare in PKAN. CASES: We reviewed videotaped motor examinations of 43 genetically confirmed patients with PKAN in order to identify and classify sensory tricks. All patients presented some feature of dystonia. Eighteen (42%) had one or more well-structured sensory tricks. Twelve different sensory tricks were identified, eight typical and four atypical (forcible motor): four in cervical dystonia, four in limb dystonia, three in oromandibular dystonia, and one in blepharospasm. A characteristic forcible motor maneuver for oromandibular dystonia (previously described as the "mantis sign") was present in 8 patients. CONCLUSIONS: Sensory tricks are common in PKAN, particularly for oromandibular dystonia. The mantis sign may be a useful clue for the diagnosis.
Filiaciones:
Martins J:
Pediatric Neurology Department, Centro Materno Infantil do Norte Centro Hospitalar Universitário do Porto Porto Portugal
Darling A:
Pediatric Movement Disorders Unit Hospital Sant Joan de Deu Barcelona Spain
Garrido C:
Pediatric Neurology Department, Centro Materno Infantil do Norte Centro Hospitalar Universitário do Porto Porto Portugal
Espinós C:
Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders Unit Centro de Investigacion Príncipe Felipe Valencia Spain
Martí MJ:
Parkinson's Disease and Movement Disorders Unit Neurology Service, ICN, Hospital Clínic, IDIBAPS, CIBERNED, University of Barcelona Barcelona Spain
Dueñas BP:
Pediatric Neurology Department, Hospital Vall d'Hebrón Universitat Autónoma de Barcelona. Vall d'Hebron Research Institute Barcelona Barcelona Spain
Temudo T:
Pediatric Neurology Department, Centro Materno Infantil do Norte Centro Hospitalar Universitário do Porto Porto Portugal
Green Published, Bronze
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