Cross-linguistic study of vocal pathology: perceptual features of spasmodic dysphonia in French-speaking subjects

Clinical characterisation of Spasmodic Dysphonia of the adductor type (SD) in French speakers by Klap and colleagues (1993) appears to differ from that of SD in English. This perceptual analysis aims to describe the phonetic features of French SD. A video of 6 French speakers with SD supplied by Klap and colleagues was analysed for frequency of phonatory breaks, pitch breaks, harshness, creak, breathiness and falsetto voice, rate of production, and quantity of speech output. In contrast to English SD, the French speaking SD patients demonstrated no evidence pitch breaks, but phonatory breaks, harshness and breathiness were prominent features. This verifies the French authors’ (1993) clinical description. These findings suggest that phonetic properties of a specific language may affect the manifestation of pathology in neurogenic voice disorders

Long-Term Effect of Sodium Oxybate (Xyrem) in Spasmodic Dysphonia with Vocal Tremor

Symptoms of spasmodic dysphonia (SD) are usually managed successfully with botulinum toxin injections. Vocal tremor (VT), which accompanies SD, has a poor response to this treatment. Case Report We report a case of a female with SD and VT who became symptom-free for 10 months after the intake of a single dose of sodium oxybate (Xyrem). The long-term treatment effect correlated with attenuated brain activity in the key regions of dystonic brain network. Discussion Our case demonstrates that the novel treatment of sodium oxybate may hold promise for SD patients, especially those who have associated VT

Review of differential diagnosis and management of spasmodic dysphonia

Purpose of Review: The recent literature on spasmodic dysphonia is reviewed with regard to pathogenesis, differential diagnosis, treatment options, audits, and current methods of management. Recent Findings: Advances in technology have enabled clinicians to better understand the connection between brain and laryngeal function and dysfunction. Refinements in imaging and genetic investigation techniques have led to advances in the understanding of the underlying mechanism of this neuro-laryngeal disorder. Development of diagnostic assessment tools and measures of Quality of Life hold the potential to improve treatment and care. Summary: Fifty articles published between 2014 and 2015 were selected for this review. The sources were drawn from several clinical specialties: 54% come under the scope of laryngology, 32% from neurology, and 14% from other areas. It remains poorly understood, misdiagnosed and under diagnosed. Its identification, diagnosis, treatment selection, and coordination of care require an expert specialist multi-disciplinary team. More training is required to help people who have this chronic and psychosocially disabling voice disorder, which impinges on all aspects of their lives. Spasmodic dysphonia is now classified as a “rare” disease in the USA. This designation will assist in international standards of diagnosis, assessment, treatment, and management

Eating dysfunction associated with oromandibular dystonia: clinical characteristics and treatment considerations

BACKGROUND: In oromandibular dystonia (OMD) abnormal repetitive contractions of masticatory, facial, and lingual muscles as well as the presence of orobuccolingual (OBL) dyskinesias may interfere with the appropriate performance of tasks such as chewing and swallowing leading to significant dysphagia and weight loss. We present here the clinical characteristics and treatment variables of a series of patients that developed an OMD-associated eating dysfunction. METHODS: We present a series of patients diagnosed and followed-up at the Movement Disorders Clinic of the Department of Neurology of University of Miami, Miller School of Medicine over a 10-year period. Patients were treated with botulinum toxin injections according to standard methods. RESULTS: Five out of 32 (15.6%) OMD patients experienced symptoms of eating dysfunction associated with OMD. Significant weight loss was reported in 3/5 patients (ranged for 13–15 lbs). Two patients regained the lost weight after treatment and one was lost to follow-up. Tetrabenazine in combination with other antidystonic medication and/or botulinum toxin injections provided substantial benefit to the patients with dysphagia caused by OMD. CONCLUSION: Dystonic eating dysfunction may occasionally complicate OMD leading to weight loss. Its adequate characterization at the time of history taking and clinical examination should be part of outcome measurements of the anti-dystonic treatment in clinical practice

Injeksi Toksin Botulinum pada Disfonia Spasmodik Tipe Adduktor

Disfonia spasmodik adalah gangguan fonasi akibat gerakan involunter, intermiten dan ireguler dari otot-otot intrinsik laring. Hingga saat ini patofisiologinya masih belum jelas. Gejalanya yang tidak familiar di kalangan klinisi sering menyebabkan keterlambatan diagnosis. Terapi injeksi botulinum masih menjadi pilihan pertama untuk mengobati gejala disfonia spasmodik. Laporan Kasus: Seorang wanita 50 tahun mengeluh suara seperti tercekik dan terputus-putus saat bicara sejak 1,5 tahun lalu. Pemeriksaan laring tidak menemukan adanya lesi patologis. Diagnosis disfonia spasmodik tipe adduktor ditegakkan berdasarkan persepsi suara. Dilakukan injeksi botulinum pada otot tiroaritenoid, dan memberikan hasil yang memuaskan selama 3 bulan. Kesimpulan: Penegakkan diagnosis disfonia spasmodik masih merupakan tantangan untuk klinisi. Injeks

Disfonija kao rijetka manifestacija papiloma pontocerebelarnog koroidnog pleksusa

A case is presented of a patient with dysphonia, hearing loss and ataxia due to vestibulocochlear and vagal nerve compression by choroid plexus papilloma in the cerebellopontine angle. Choroid plexus papillomas are rare tumors usually arising in the lateral and fourth ventricle, and rarely found in the cerebellopontine angle, making the neuroimaging characteristics usually not sufficient for diagnosis. Patients usually present with headache and hydrocephalus but tumors in the cerebellopontine angle can cause vestibulocochlear dysfunction and cerebellar symptoms. Dysphonia along with hearing loss was a dominant symptom in the case presented. After complete surgical removal of the tumor, deterioration of dysphonia was noticed; it could be explained as peripheral vagal nerve neuropathy due to tumor compression and intraoperative manipulation. In this case report, we describe dysphonia as an uncommon presentation of a rare posterior fossa tumor. To our knowledge, a case of choroid plexus papilloma presenting with dysphonia has not been described before. Our case extends the differential diagnosis of dysphonia from the otorhinolaryngological to the neurosurgical field.Prikazuje se slučaj bolesnika s disfonijom, gubitkom sluha i ataksijom uslijed pritiska na osmi i deseti moždani živac papilomom koroidnog pleksusa u cerebelopontinom kutu. Papilomi koroidnog pleksusa su rijetki tumori koji se obično javljaju u postraničnoj i četvrtoj moždanoj komori te zbog rijetke pojavnosti u cerebelopontinom kutu neuroradiološke karakteristike nisu dostatne za postavljanje dijagnoze. Bolesnici se obično klinički prezentiraju glavoboljom i hidrocefalusom, no tumori u cerebelopontinom kutu mogu dovesti do poremećaja funkcije osmog moždanog živca i cerebelarnih simptoma. U prikazanom slučaju kao dominantni simptom javila se disfonija uz gubitak sluha. Nakon potpunog kirurškog odstranjenja tumora primijećeno je pogoršanje disfonije, što se moglo objasniti perifernom neuropatijom desetog moždanog živca uslijed pritiska tumora i intraoperacijske manipulacije. U ovom prikazu slučaja opisuje se disfonija kao neuobičajena prezentacija rijetkog tumora stražnje lubanjske jame. Prema našim spoznajama dosad nije opisan slučaj papiloma koroidnog pleksusa koji se prezentira disfonijom. Ovaj slučaj proširuje diferencijalnu dijagnozu disfonije iz otorinolaringološkog polja na neurokirurško polje