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A Patient with Proximal Myotonic Myopathy and Parkinsonism

Published online by Cambridge University Press:  14 September 2018

Kon Chu
Affiliation:
Department of Neurology and Clinical Research Institute, Seoul National University Hospital, Neuroscience Research Institute of SNUMRC. Seoul, Korea
Jin-Whan Cho
Affiliation:
Department of Neurology and Clinical Research Institute, Seoul National University Hospital, Neuroscience Research Institute of SNUMRC. Seoul, Korea Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA
Eun-Chol Song
Affiliation:
Department of Neurology and Clinical Research Institute, Seoul National University Hospital, Neuroscience Research Institute of SNUMRC. Seoul, Korea
Beom S. Jeon*
Affiliation:
Department of Neurology and Clinical Research Institute, Seoul National University Hospital, Neuroscience Research Institute of SNUMRC. Seoul, Korea
*
Beom S. Jeon, Department of Neurology, Seoul National University Hospital, 28, Yongon-Dong, Chongno-Gu, Seoul 110-744, South Korea.
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Abstract:

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Introduction:

There are two case reports of patients who had proximal myotonic myopathy (PROMM) / myotonic dystrophy (DM) Type 1 and parkinsonism. The combination of myotonic myopathy and parkinsonism is so rare that it may appear to be just a coincidence. However, previous neuropathological examinations of patients who had myotonic dystrophy showed that there were intracytoplasmic inclusion bodies in the nigra and striatum, which raises the possibility that myotonic myopathy may be associated with parkinsonism. In this report we describe a patient with PROMM and a clinically definite parkinsonism to highlight this possibility.

Case Report:

A 65-year-old man developed proximal muscle weakness, myotonia and atrophy around the age of 55 and was diagnosed as having PROMM at the age of 62. Needle electromyography and muscle biopsy supported the diagnosis. A gene study of the DM Type 1 showed a normal CTG repeat length. At age 63, he developed rest tremor, bradykinesia, hypomimia, stooped posture, and gait disturbance. The postural instability worsened rapidly. The tremor and rigidity were much worse in his right side, where myotonia was more severe. Levodopa therapy was only partially effective.

Conclusion:

This is a case report of a patient with PROMM that shows an association with a rapidly progressive form of parkinsonism. We suggest that this may be a novel form of a neurodegenerative disorder, which we name ‘Parkinsonism- Myotonic Myopathy-Complex’.

Résumé:

Résumé:Introduction:

Il y a deux observations de patients atteints de myopathie myotonique proximale (MMPRO)/dystrophie myotonique (DM) de type 1 et de parkinsonisme rapportées dans la littérature. La combinaison d’une myopathie myotonique et de parkinsonisme est si rare qu’on peut penser qu’il s’agit d’une coïncidence. Cependant, l’examen anatomopathologique de tissus nerveux de patients atteints de dystrophie myotonique a montré qu’il y a des corps d’inclusion intracytoplasmiques dans la substance noire et le striatum, ce qui soulève la possibilité que la myopathie myotonique puisse être associée au parkinsonisme. Pour illustrer cette possibilité, nous décrivons le cas d’un patient atteint de MMPRO qui présentait cliniquement du parkinsonisme.

Observation:

Un homme âgé de 65 ans a développé de la faiblesse musculaire proximale, de la myotonie et de l’atrophie vers l’âge de 55 ans. Le diagnostic de MMPRO a été posé à 62 ans. Un électromyogramme et une biopsie musculaire ont confirmé le diagnostic. Une étude du gène de la DM de type 1 a montré une longueur normale du triplet CTG. À l’âge de 63 ans, il a développé un tremblement de repos, de la bradykinésie, de l’hypomimie, une posture voûtée et une démarche anormale. L’instabilité posturale a progressé rapidement. Le tremblement et la rigidité étaient beaucoup plus marqués du côté droit où la myotonie était plus sévère. Le traitement par la lévodopa n’a été que partiellement efficace.

Conclusion:

Nous rapportons le cas d’un patient atteint de MMPRO associée à une forme de parkinsonisme à progression rapide. Nous suggérons qu’il peut s’agir d’une forme nouvelle de désordre neurodégénératif que nous désignons sous le nom de “complexe myopathie myotonique-parkinsonisme”.

Type
Case Reports
Copyright
Copyright © Canadian Neurological Sciences Federation 2002

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