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Objectives1. To present the first documented series of patients with negative dystonia of thepalate including presenting symptoms, clinical findings and management options2. To discuss possible etiologies including functional MRI data

MethodsRetrospective case series of four patients assessed at a clinical research center. Data was collected on patient demographics, disease characteristics, functional MRI findings and long-term management options and outcomes.

ResultsThere were four included patients (2 males / 2 females). All patients presented with hypernasal speech without associated dysphagia. Other cranial and / or limb dystonia was present in 2 patients (50%). Three patients had previously failed oral pharmacologic therapy. Clinical examination of all patients revealed absent palatal movement on speaking despite intact gag reflexes, normal palate elevation on swallowing and normal cranial nerve examinations. Two patients underwent functional MRI studies. Management options included speech therapy and calcium hydroxyapatite injections into the soft palate and Passavants’ ridge.

Conclusions This is the first report of negative dystonia of the palate. Examination findings are diagnostic and include absent palatal movement with speech despite normal movement on swallowing and an intact gag reflex. A diagnosis of negative dystonia of the palate should be considered for patients who present with hypernasal speech without associated swallowing abnormalities.

Negative Dystonia of the Palate:A Novel Entity and Diagnostic Consideration in Hypernasal Speech

Catherine F Sinclair MD1;Kristina Simonyan MD3,PhD;Mitchell F Brin MD2;Lowell E Gurey MD1;Scott Rickert MD1;Andrew Blitzer MD, DDS1

1New York Center for Voice and Swallowing Disorders, St. Luke's Roosevelt Medical Center, New York2Department of Neurology, University of California-Irvine, Irvine, California

3Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, New York

•Examination findings common to all patients are summarized in Table 2 and significant findings for individual patients are summarized in Table 3

•Functional MRI results for patients 1 and 2 during speech are compared to normal controls in Figure 2, demonstrating that overall pattern of brain activation was not uniform between patients but was decreased when compared with controls.

•The term ‘negative dystonia’ was first coined in 1998 with reference to apraxia of eyelid opening (ALO)1

•It has been hypothesized that if dystonia is regarded as a symptom of defective regulation of muscle activities including pseudopareticsymptoms, several etiologically controversial conditions may represent negative dystonias

•We believe that the patients presented herein represent the first reported cases of ND of the palate based on thea)task-specific nature of symptoms with speech but not swallowing;b)Absence of other causes of muscle paralysis of central or peripheral origin or of local myopathic diseases;c)Absence of structural brain abnormalities;d)Co-existence of dystonia of other body parts in 3 patients; ande)Improvement of symptoms and increased muscular contraction lateral pharyngeal wall musculature with injection augmentation of the pharynx and palate which is hypothesized to have acted as a sensory trick.

•The fMRI image for Patient 1, taken after injection augmentation with clinical evidence of increased lateral pharyngeal wall muscle contractions, displayed a pattern of activation that was more similar to controls than patient 2 during speech (Figure 2) and exhalation (images not shown)

A diagnosis of ND of the palate should be considered for patients presenting with hypernasal speech without associated swallowing abnormalities. And

•Dystonia is characterized by sustained muscle contractions whereby co-existing agonist and antagonist muscle activity causes abnormal, frequently repetitive postures or movement

• Recently the term ‘negative dystonia’ (ND) has been introduced to describe a predominance of pseudoparetic type symptoms due to deficient muscle activation with or without the traditional sustained muscular contractions (Mezaki, 2007)

• Integral to the classification of ND is the absence of muscle paralysis of central or peripheral origin or of local myopathic diseases.

• We present an inaugural case series of patients with what we believe to be a negative dystonia of the palate

INTRODUCTION

METHODS AND MATERIALS

1. Mezaki T. Dystonia redefined as a central non-paretic loss of control of muscle action: A concept including inability to activate muscles required for a specific movement, or ‘negative dystonia’. Med Hypoth 2007;69:1309-1312.

CONCLUSIONS

DISCUSSION

RESULTS

REFERENCES

Figure 1a. View of superior palate showing absence of palatal

movement on speaking.

Figure 1b. View of superior palate showing normal palatal elevation

on swallowing.

ABSTRACT

CONTACT

HEAD & NECKSurgical Group

Andrew Blitzer, MD DDSNew York Center for Voice and Swallowing Disorders, Head and Neck Surgical Group, New YorkEmail: ab1136@aol.com Phone: 212 262 4444

•Retrospective case series of four patients assessed between September 2000 and March 2012.•All patients underwent full neurological examination and work-up, including magnetic resonance imaging (MRI) of the brain.

Outcome measures•Patient demographics•Symptom and disease characteristics•Clinical examination findings•Functional MRI imaging (fMRI) results for 2 patients compared with normal controls

•Overall group demographics are summarized in Table 1

•Symptoms and examination findings common to all patients included:

•Hypernasal speech with absent palatal movement on speech, best seen via transnasal endoscopy (Figure 1a)

•Normal palatal movement with swallowing

•No dysphagia or nasal regurgitation on eating

•All patients had normal MRI brain studies

Figure 1c. Increased lateral pharyngeal wall contraction during speaking after injection

augmentation

RESULTS (continued)

Figure 2. Functional MRI results for patients 1 & 2 compared with normal fMRI scans during speech

Patient 1

Patient 2

15 Healthy Controls