Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
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...
| Autores: | , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2019 |
| País: | España |
| Institución: | Fundació Sant Joan de Déu |
| Repositorio: | r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| OAI Identifier: | oai:fsjd.fundanetsuite.com:p16874 |
| Acceso en línea: | https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16874 https://onlinelibrary.wiley.com/doi/full/10.1002/mdc3.12842 |
| Access Level: | acceso abierto |
| Palabra clave: | PKAN alleviating maneuvers secondary dystonia sensory tricks |
| Sumario: | 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. |
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