Velopharyngeal insufficiency as the initial manifestation of a Myotonic Dystrophy type 1: A case report |
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| Authors: | Andres Silva-Rojas Antonio Ysunza Daniel Diaz-Torres Mercedes Bardales-Lazcano Maria C Pamplona |
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| Institution: | 2. Department of Speech and Hearing Science, University of Illinois Urbana-Champaign, Champaign, Illinois;2. Department of Speech-Language Pathology, University of Toronto, Toronto, Ontario, Canada;3. Faculty of Music, University of Toronto, Toronto, Ontario, Canada;4. Department of Speech-Language Pathology, University of Toronto, Toronto, Ontario, Canada |
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| Abstract: | Velopharyngeal insufficiency (VPI) is a disorder affecting nasal resonance during speech. The most common cause of VPI is a cleft palate. However, VPI can occur as a consequence of a neuromuscular or neurologic disorder without a palatal malformation. Myotonic Dystrophy type 1 is a hereditary muscular disorder. In these cases, the abnormality is located on the 19q13.3 region, including a myotonic dystrophy protein kinase CTG repeat. This disease has several clinical manifestation features depending of the number of CTG repeats. The myotonic dystrophy can affect several muscle groups. VPI associated with the involvement of the velopharyngeal muscles, has been reported as the main clinical feature in some cases. The purpose of this paper is to present a case of VPI as the main clinical manifestation in a patient with a Myotonic Dystrophy type 1. |
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