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A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism
The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically pr...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Movement Disorder Society
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182305/ https://www.ncbi.nlm.nih.gov/pubmed/30304928 http://dx.doi.org/10.14802/jmd.18028 |
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author | Choi, Ji-Hyun Lee, Jee-Young Kim, Han-Joon Jeon, Beomseok |
author_facet | Choi, Ji-Hyun Lee, Jee-Young Kim, Han-Joon Jeon, Beomseok |
author_sort | Choi, Ji-Hyun |
collection | PubMed |
description | The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia. |
format | Online Article Text |
id | pubmed-6182305 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | The Korean Movement Disorder Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-61823052018-10-19 A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism Choi, Ji-Hyun Lee, Jee-Young Kim, Han-Joon Jeon, Beomseok J Mov Disord Case Report The current body of literature contains 5 reports of myotonic dystrophy (DM) with parkinsonism: 4 reports of DM type 2 and 1 report of clinically suspected DM type 1. To date, there have been no genetically proven cases of DM type 1 with parkinsonism. Here, we report the first case of genetically proven DM type 1 and parkinsonism that developed ahead of muscle symptoms with bilateral putaminal, presynaptic dopaminergic deficits on imaging. A 54-year-old female patient presented with bradykinesia, axial and bilateral limb rigidity, stooped posture, and hypomimia, which did not respond to levodopa. At age 56, she developed neck flexion weakness. Examination showed bilateral facial weakness, percussion and grip myotonia, and electromyography confirmed myotonic discharges. A genetic study of DM type 1 showed a DMPK mutation. At age 58, gait freezing, postural instability, and frequent falling developed and did not respond to increasing doses of levodopa. At age 59, the patient died from asphyxia. The Korean Movement Disorder Society 2018-09 2018-09-30 /pmc/articles/PMC6182305/ /pubmed/30304928 http://dx.doi.org/10.14802/jmd.18028 Text en Copyright © 2018 The Korean Movement Disorder Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Choi, Ji-Hyun Lee, Jee-Young Kim, Han-Joon Jeon, Beomseok A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism |
title | A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism |
title_full | A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism |
title_fullStr | A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism |
title_full_unstemmed | A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism |
title_short | A Patient with Myotonic Dystrophy Type 1 Presenting as Parkinsonism |
title_sort | patient with myotonic dystrophy type 1 presenting as parkinsonism |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182305/ https://www.ncbi.nlm.nih.gov/pubmed/30304928 http://dx.doi.org/10.14802/jmd.18028 |
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