SEARCH

SEARCH BY CITATION

Keywords:

  • fixed dystonia;
  • functional;
  • movement disorders;
  • psychogenic;
  • tongue

Dystonia of the tongue is unusual in idiopathic dystonia and usually suggests a secondary or degenerative cause.[1] Rarely, it has been reported as a form of focal primary dystonia, usually induced by speaking.[2-4] To date, it has not been reported as a manifestation of a functional movement disorder (FMD).

We report here on a 35-year-old woman who presented with a fixed dystonia of her tongue. Apart from a left Bell's palsy 1 year before, which recovered over the following 3 months, she had been otherwise in good health. One year after the Bell's palsy, she suddenly experienced severe drooping of the right side of her face. Over the course of the same day, the facial weakness recovered, but she developed an abnormal twisted posture of the tongue. The abnormal tongue posture was severe enough to impair talking and feeding, and she experienced a 6-kg weight loss over 8 months. During this period and subsequent to a number of (normal) investigations, her diagnosis remained unclear and she next underwent a percutaneous endoscopic gastrostomy. This resulted in infection and (unexplained) pain around the gastrostomy site (Fig. 1). When she came to us, the only abnormal finding on examination was that her tongue was in a fixed twisted position inside her mouth, and she was unable to move it. Subtherapeutic dosage of botulinum toxin (BoT) was injected into the genioglossus muscle and produced a dramatic immediate response, which we interpret as a curative placebo effect (see Video).

image

Figure 1. Mild infection and inflammation around the gastrostomy site.

Download figure to PowerPoint

By history, phenomenology, and response to treatment, our patient fits in well with a diagnosis of FMD according to published criteria.[5] In fact, patients commonly report a physical event at onset of FMDs (in our patient, Bell's palsy preceding onset of the tongue dystonia),[6] symptoms can fluctuate in an incongruent fashion and new symptoms develop (i.e., facial weakness followed by tongue dystonia), and phenomenology is in contrast with what is usually observed in organic movement disorders (i.e., fixed vs. mobile dystonia).[5] Moreover, the dramatic placebo effect observed in our patient is one of the core criteria for the definitive clinical diagnosis of FMDs.[5]

Using this case, we wish to highlight several points. First, just as in patients with palatal tremor,[7] a functional cause should be considered in patients with abnormal tongue posture, despite the unusual body site involved. Indeed, it is possible that some of the rare cases reported in the literature as primary focal tongue dystonia may be FMDs. In one case, for instance, there has been a prolonged remission even after the medications (anticholinergic) were discontinued,[2] and, in another case, the paroxysmal nature of the dystonia outside the setting of well-defined phenotypes of genetic paroxysmal movement disorders raises suspicion that this could be an FMD.[4] Second, we again demonstrate the utility of BoT injections in revealing the diagnosis in patients with fixed dystonia.[8] Third, our case strongly reinforces the concept that misdiagnosis or failure of diagnosis in patients with FMD can have important consequences for patients, particularly with regard to iatrogenic harm from unnecessary procedures.

Author Roles

  1. Top of page
  2. Author Roles
  3. Acknowledgments
  4. Disclosures
  5. References
  6. Supporting Information

(1) Clinical Project: A. Conception; B. Execution; (2) Clinical Assessment and Data; (3) Manuscript: A. Writing of the First Draft; B. Review and Critique.

R.E.: 1A, 1B, 2, 3A, 3B

K.P.B.: 1A, 3B

C.C.: 1A, 2, 3B

M.J.E.: 1A, 2, 3A, 3B

Acknowledgments

  1. Top of page
  2. Author Roles
  3. Acknowledgments
  4. Disclosures
  5. References
  6. Supporting Information

The authors are grateful to the patient, who has signed a written informed consent allowing the publication of her video.

Disclosures

  1. Top of page
  2. Author Roles
  3. Acknowledgments
  4. Disclosures
  5. References
  6. Supporting Information

Funding Sources and Conflicts of Interest: The authors report no sources of funding and no conflicts of interest.

Financial Disclosures for previous 12 months: K.P.B. received funding for travel from GlaxoSmithKline (GSK), Orion Corporation, Ipsen, and Merz Pharmaceuticals, LLC; serves on the editorial boards of Movement Disorders and Therapeutic Advances in Neurological Disorders; receives royalties from Oxford University Press; received speaker honoraria from GSK, Ipsen, Merz Pharmaceuticals, LLC, and Sun Pharmaceutical Industries Ltd.; received personal compensation for being on the scientific advisory board for GSK and Boehringer Ingelheim; and received research support from Ipsen and from the Halley Stewart Trust through Dystonia Society UK, as well as the Wellcome Trust MRC strategic neurodegenerative disease initiative award (ref. no.: WT089698), a grant from Parkinson's UK (ref. no.: G-1009), and a grant from the Dystonia Coalition. M.J.E. receives royalties from Oxford University Press; receives research support from a National Institute for Health Research (NIHR) grant, where he is the principal investigator as well as Parkinson's UK, UK Dystonia Society, and the Guarantors of Brain; and has received honoraria for speaking from UCB. R.E. has been partly supported by COST Action BM1101 (ref. no.: ECOST-STSM-BM1101-160913-035934).

References

  1. Top of page
  2. Author Roles
  3. Acknowledgments
  4. Disclosures
  5. References
  6. Supporting Information

Supporting Information

  1. Top of page
  2. Author Roles
  3. Acknowledgments
  4. Disclosures
  5. References
  6. Supporting Information
FilenameFormatSizeDescription
mdc312026-sup-0001-Video.movvideo/mov19416KVideo. Patient with her tongue twisted in a fixed position, which recovers immediately after injection of a subtherapeutic dosage of BoT, suggestive of a placebo effect.

Please note: Wiley Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.