Skip to main content

A Patient with Proximal Myotonic Myopathy and Parkinsonism

  • Kon Chu (a1), Jin-Whan Cho (a1) (a2), Eun-Chol Song (a1) and Beom S. Jeon (a1)

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.


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: 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.


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.


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”.

    • Send article to Kindle

      To send this article to your Kindle, first ensure is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

      Note you can select to send to either the or variations. ‘’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

      Find out more about the Kindle Personal Document Service.

      A Patient with Proximal Myotonic Myopathy and Parkinsonism
      Available formats
      Send article to Dropbox

      To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

      A Patient with Proximal Myotonic Myopathy and Parkinsonism
      Available formats
      Send article to Google Drive

      To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

      A Patient with Proximal Myotonic Myopathy and Parkinsonism
      Available formats
Corresponding author
Beom S. Jeon, Department of Neurology, Seoul National University Hospital, 28, Yongon-Dong, Chongno-Gu, Seoul 110-744, South Korea.
Hide All
1. Harper, PS. Myotonic Dystrophy, 2nd ed. Philadelphia, PA : Saunders, 1989.
2. Jaspert, A, Fahsold, R, Grehl, H, Claus, D. Myotonic dystrophy: correlation of clinical symptoms with the size of CTG trinucleotide repeat. J Neurol 1995;242:99-104.
3. Bird, TD, Follet, C, Griep, E. Cognitive and personality function in myotonic muscular dystrophy. J Neurol Neurosurg Psychiatry 1983;46:971-980.
4. Chang, L, Anderson, T, Migneco, A. Cerebral abnormalities in myotonic dystrophy: cerebral blood flow, magnetic resonance imaging, and neuropsychological tests. Arch Neurol 1993;50:917-923.
5. Rosman, NP, Kakulas BA. Mental deficiency associated with muscular dystrophy: a neuropathological study. Brain 1966;89:769-788.
6. Wisniewsky, HM, Berry, K, Spiro, AJ. Ultrastructure of thalamic neuronal inclusions in myotonic dystrophy. J Neurol Sci 1975;24:321-329.
7. Ono, S, Inoue, K, Mannen, T, et al. Neuropathological changes of the brain in myotonic dystrophy: some new observations. J Neurol Sci 1987;81:310-320.
8. Ono, S, Inoue, K, Mannen, T, et al. Intracytoplasmic inclusion bodies of the thalamus and the substantia nigra, and the Marinesco bodies in myotonic dystrophy: a quantitative morphological study. Acta Neuropathol 1989;77:350-356.
9. Ono, S, Takahashi, K, Kanda, F, et al. Immunohistochemical study of intracytoplasmic inclusion bodies of the thalamus in myotonic dystrophy. J Neurol Sci 1996;140:96-100.
10. Okuma, Y, Tanaka, S, Nomura, Y, et al. A 63-year-old woman with muscle weakness, myotonia, and parkinsonism. No To Shinkei 1996;48:287-297. [Article in Japanese]
11. Hund, E, Jansen, O, Koch, MC, et al. Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology 1997;48:33-37.
12. Aslandis, C, Jansen, G, Amemiya, C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992;355:548-551.
13. Buxton, J, Shelbourne, P, Davies, J, et al. Detection of an unstable fragment DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-548.
14. Harley, HG, Brook, JD, Rundle, SA, et al. Expansion of an unstable DNA region and phenotype variation in myotonic dystrophy. Nature 1992;355:545-546.
15. Thornton, CA, Griggs, RC, Moxley, RT III. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-272.
16. Ricker, K, Koch, MC, Lehmann-Horn, F. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31.
17. Meola, F, Sansone, V, Radice, S, Skradski, S, Ptacek, L. Afamily with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 1996;6:143-150.
18. Udd, B, Krahe, R, Wallgren-Pettersson, C, Falck, B, Kalimo, H. Proximal myotonic dystrophy-a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 1997;7:217-228.
19. Ranum, LP, Rasmussen, PF, Benzow, KA, Koob, MD, Day, JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998;19:196-198.
20. Day, JW, Roelofs, R, Leroy, B, et al. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord 1999;9:19-27.
21. The international myotonic dystrophy consortium (IDMC). New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000;54:1218-1221.
Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Canadian Journal of Neurological Sciences
  • ISSN: 0317-1671
  • EISSN: 2057-0155
  • URL: /core/journals/canadian-journal-of-neurological-sciences
Please enter your name
Please enter a valid email address
Who would you like to send this to? *


Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed