Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
(17/189)
We describe a pedigree of Anglo-Celtic origin with a phenotypically unique form of dominantly inherited spinocerebellar ataxia (SCA) in 14 personally examined affected members. A remarkable observation is dentate nucleus calcification, producing a low signal on MRI sequences. Unusually for an SCA, dysarthria is typically the initial manifestation. Mild pyramidal signs and hypermetric saccades are noted in some. Its distinguishing clinical features, each present in a majority of affected persons, are palatal tremor, and a form of dysphonia resembling spasmodic dysphonia. Repeat expansion detection failed to identify either CAG/CTG or ATTCT/AGAAT repeat expansions segregating with the disease in this family. The testable SCA mutations have been excluded. On linkage analysis, the locus maps to chromosome 11, which rules out all the remaining mapped SCAs except for SCA5. While locus homogeneity with SCA5 is not formally excluded, we consider it rather unlikely on phenotypic grounds, and propose that this condition may represent an addition to the group of neurogenetic disorders subsumed under the rubric SCA. The International Nomenclature Committee has made a provisional assignment of 'SCA20', although firm designation will have to await a definite molecular distinction from SCA5. (+info)
Lingual thyroid causing dysphonia: evaluation and management. Case report.
(18/189)
CONTEXT: Lingual thyroid gland is a rare clinical entity that is caused by the failure of the thyroid gland to descend to a normal cervical location during embryogenesis. The occurrence of an ectopic thyroid gland located at the base of the tongue may cause problems for the patient, with symptoms of dysphagia, dysphonia, upper airway obstruction or even hemorrhage at any time from infancy through adulthood. CASE REPORT: We report on a case of lingual thyroid gland in a 41-year-old female patient. The embryology and diagnosis of ectopic thyroid are discussed and its management is outlined. Features of the diagnostic and therapeutic evaluation are described with attention to the clinical findings, laboratory tests, thyroid scan and computed tomography imaging studies employed in the confirmation of diagnosis and planning of appropriate treatment. The history of the condition is reviewed and a treatment strategy is outlined. Surgical excision of the gland is reserved for cases of gland enlargement that result in compromised airways (dysphagia or dysphonia) or recurrent hemorrhage. (+info)
The new perilaryngeal airway (CobraPLA) is as efficient as the laryngeal mask airway (LMA) but provides better airway sealing pressures.
(19/189)
The Laryngeal Mask Airway (LMA) is a frequently used efficient airway device, yet it sometimes seals poorly, thus reducing the efficacy of positive-pressure ventilation. The Perilaryngeal Airway (CobraPLA) is a novel airway device with a larger pharyngeal cuff (when inflated). We tested the hypothesis that the CobraPLA was superior to the LMA with regard to insertion time and airway sealing pressure and comparable to the LMA in airway adequacy and recovery characteristics. After midazolam and fentanyl administration, 81 ASA physical status I-II outpatients having elective surgery were randomized to receive an LMA or CobraPLA. Anesthesia was induced with propofol (2.5 mg/kg IV), and the airway was inserted. We measured 1) insertion time; 2) adequacy of the airway (no leak at 15-cm-H2O peak pressure or tidal volume of 5 mL/kg); 3) airway sealing pressure; 4) number of repositioning attempts; and 5) sealing quality (no leak at tidal volume of 8 mL/kg). At the end of surgery, gastric insufflation, postoperative sore throat, dysphonia, and dysphagia were evaluated. Data were compared with unpaired Student's t-tests, chi2 tests, or Fisher's exact tests; P < 0.05 was significant. Patient characteristics, insertion times, airway adequacy, number of repositioning attempts, and recovery were similar in each group. Airway sealing pressure was significantly greater with CobraPLA (23 +/- 6 cm H2O) than LMA (18 +/- 5 cm H2O, P < 0.001). The CobraPLA has insertion characteristics similar to the LMA but better airway sealing capabilities. (+info)
Laryngeal electromyography in movement disorders: preliminary data.
(20/189)
This study describes preliminary laryngeal electromyography (LEMG) data and botulinum toxin treatment in patients with dysphonia due to movement disorders. Twenty-five patients who had been clinically selected for botulinum toxin administration were examined, 19 with suspected laryngeal dystonia or spasmodic dysphonia (SD), 5 with vocal tremor, and 1 with Gilles de la Tourette syndrome (GTS). LEMG evaluations were performed before botulinum toxin administration using monopolar electrodes. Electromyography was consistent with dystonia in 14 patients and normal in 5, and differences in frequency suggesting essential tremor in 3 and Parkinson tremors in 2. The different LEMG patterns and significant improvement in our patients from botulinum toxin therapy has led us to perform laryngeal electromyography as a routine in UNICAMP movement disorders ambulatory. (+info)
Persistent swallowing and voice problems after anterior cervical discectomy and fusion with allograft and plating: a 5- to 11-year follow-up study.
(21/189)
Anterior cervical discectomy and fusion is commonly performed for cervical disc disease. Most studies report that swallowing and voice problems after such surgeries tend to resolve with time and are often of minor significance except in the rare cases of recurrent laryngeal nerve palsies. A retrospective review was performed on patients who had anterior cervical discectomy and fusion by a single surgeon more than 5 years prior, to determine the persistence of swallowing and voice problems in them. Seventy-four patients who had anterior cervical discectomy and fusion with allograft and plating an average of 7.2 years prior responded to an invitation to return for a follow-up clinical review. Emphasis was placed on the symptoms of dysphagia and dysphonia, as related to the index surgery. At final review, persistent dysphagia was present in 26 patients (35.1%). This occurred more frequently in females and in younger patients. Dysphonia at final review persisted in 14 patients (18.9%). This also occurred more commonly in females and in patients in whom possible non-union is present in at least one of the levels operated upon. Problems with singing were present in 16 patients (21.6%) postoperatively, occurring more frequently if the C3/4 disc was included in the surgery and in patients who have had a greater total number of anterior cervical surgeries at the time of review. Dysphonia and dysphagia are persistent problems in a significant proportion of patients, even beyond 5 years after anterior cervical spine surgery. (+info)
Parkinsonism following bilateral lesions of the globus pallidus: performance on a variety of motor tasks shows similarities with Parkinson's disease.
(22/189)
OBJECTIVES: The authors report the results of detailed investigations into the motor function of a patient who, after a heavy drinking binge and subsequent unconsciousness, respiratory acidosis, and initial recovery, developed parkinsonism characterised by hypophonic speech and palilalia, "fast micrographia", impaired postural reflexes, and brady/akinesia in proximal (but not distal) alternating upper limb movements. METHODS: In addition to brain magnetic resonance imaging (MRI), different aspects of motor function were investigated using reaction time (RT) tasks, pegboard and finger tapping tasks, flex and squeeze tasks, movement related cortical potentials (MRCPs), and contingent negative variation (CNV). Cognitive function was also assessed. The results were compared to those previously reported in patients with Parkinson's disease (PD). RESULTS: Brain MRI showed isolated and bilateral globus pallidus (GP) lesions covering mainly the external parts (GPe). These lesions were most probably secondary to respiratory acidosis, as other investigations failed to reveal an alternative cause. The results of the RT tasks showed that the patient had difficulties in preparing and maintaining preparation for a forthcoming movement. MRCP and CNV studies were in line with this, as the early component of the MRCP and CNV were absent prior to movement. The patient's performance on pegboard and finger tapping, and flex and squeeze tasks was normal when performed with one hand, but clearly deteriorated when using both hands simultaneously or sequentially. CONCLUSIONS: In general, the present results were similar to those reported previously in patients with PD. This provides further indirect evidence that the output of globus pallidus is of major importance in abnormal motor function in PD. The possible similarities of the functional status of GP in PD and our case are discussed. (+info)
Acoustic voice assessment in Parkinson's disease patients submitted to posteroventral pallidotomy.
(23/189)
Long-term complications in levodopa treated Parkinson's disease (PD) patients caused a resurgence of interest in pallidotomy as an option of treatment. However, postoperative complications such as speech disorders can occur. PURPOSE: The aim of this study is to evaluate the acoustic voice in PD patients, before and after posteroventral pallidotomy. METHOD: Twelve patients with PD were submitted to neurological and voice assessments during the off and on phases, in the pre-operative, 1st and 3rd post-operative months. The patients were evaluated with the UPDRS and the vocal acoustic parameters -- f0, NHR, jitter, PPQ, Shimmer, APQ (using the software MultiSpeech-Kay Elemetrics-3700). RESULTS: The off phase UPDRS scores revealed a tendency to improvement at the 1st month and the off phase worsened. The shimmer and APQ improved. CONCLUSION: This study shows that pallidotomy has little improvement on functional use of communication of PD patients. (+info)
Xerostomia following radiotherapy of the head and neck affects vocal function.
(24/189)
PURPOSE: To investigate whether xerostomia induced by wide-field radiotherapy (RT) of the head and neck affects vocal function. PATIENTS AND METHODS: We conducted a retrospective cohort study comparing 20 patients with early glottic cancer treated by limited RT of the larynx to 20 patients receiving wide-field RT of the primary tumor site and the lymphatic system of the entire head and neck, including the salivary glands. Salivary and vocal functions, as well as responses to questionnaires on xerostomia and quality of life were compared between groups. Twenty healthy volunteers matched for age, sex, and smoking status were included as controls. RESULTS: The wide-field RT patients showed high xerostomia-related symptom scores and significantly lower values of whole salivary flow rate compared to the limited RT and healthy patients (P < .001). Subjective vocal dysfunction and stroboscopic abnormality were observed in the wide-field RT group (P < .05), but acoustic or aerodynamic profiles showed no significant difference among groups (P > .05). Subjective and objective salivary gland hypofunction was significantly correlated to vocal dysfunction. CONCLUSION: Our results suggest that xerostomia following extensive RT of the head and neck can affect vocal function. In the treatment of head and neck malignancies, efforts to prevent post-RT xerostomia would be anticipated to contribute to the preservation of vocal function. (+info)