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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...

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Autores principales: Choi, Ji-Hyun, Lee, Jee-Young, Kim, Han-Joon, Jeon, Beomseok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2018
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.
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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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