BACKGROUND TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). In rare cases, additional features such as muscle weakness, peripheral neuropathy, ataxia, cardiomyopathy, dysphagia, dysphonia, cataracts, depression, dementia, parkinsonism, and hearing loss have been reported in association with heterozygous mutations of the TWINKLE gene. MET...

BACKGROUND Prevalence of paediatric voice disorders has been reported as 6-9% in children of school age. The appropriate diagnosis and management of paediatric voice disorders is essential for progress in education and psychosocial development. This paper presents a review of a UK tertiary paediatric voice clinic experience of referral patterns, diagnosis, management and socioeconomic variation...

BACKGROUND The aim of this study has been to assess the larynx and soft tissue around the vocal tract in a group of people with healthy voice, and in a group of patients with occupational dysphonia using the new laryngeal manual therapy palpatory evaluation scale (LMTPE). MATERIAL AND METHODS The examinations were performed in a study (dysphonic) group of professional voice users who had deve...

OBJECTIVE This study focuses on the relation of smoking, carcinophobia and voice handicap in dysphonic patients. PATIENTS AND METHODS Fifty-four German-speaking outpatient voice clinic attendees suffering from dysphonia of benign origin took part in this study. All patients completed the German version of the Voice Handicap Index (VHI) and were asked about their fear of suffering from larynge...

OBJECTIVE To evaluate voice function in patients with adductor spasmodic dysphonia (AdSD) who discontinued botulinum toxin (BTX) treatment because they felt that their voice had improved sufficiently. PATIENTS AND METHODS Twenty-eight patients quit treatment in 2004, of whom 20 fulfilled the inclusion criteria for the study, with 3 subsequently excluded because of return of symptoms, leaving ...

Anterior cervical osteophytes are common and usually asymptomatic in elderly people. Due to mechanical compressions, inflammations, and tissues swelling of osteophytes, patients may be presented with multiple complications, such as dysphagia, dysphonia, dyspnea, and pulmonary aspiration. Paradoxical vocal cord motion is an uncommon disease characterized by vocal cord adductions during inspirati...

Spasmodic dysphonia is defined as a focal laryngeal disorder characterized by dystonic spasms of the vocal cord during speech. We described a case of a 22-year-old male patient who presented complaining of idiopathic difficulty swallowing that suddenly developed 6 months ago. The patient also reported pharyngolaryngeal pain, throat discomfort, dyspnea, and voice change. Because laryngoscopy fou...