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...

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...

Spasmodic dysphonia is a disabling voice condition caused by a chronic neurological disorder of central motor processing. Present therapy is directed at relief of symptoms rather than cure. Botulinum toxin type A injection into the thyroarytenoid muscle has become the pre-eminent approach for treatment of adductor spasmodic dysphonia. Botulinum toxin A injections can be performed in an out-pati...

Traditionally, treatment of dysphagia and dysphonia has followed a specificity approach whereby treatment plans have focused on each dysfunction individually. Recently however, a therapeutic cross-system effect has been proposed between these two dysfunctions. At least one study has demonstrated swallowing improvement in subjects who completed a dysphonia treatment program. However, we are unaw...

Background: Metabolic derangements in type 2 diabetes mellitus (T2DM) are likely to affect skeletal muscle contractile functions adversely. Levo-carnitine improves muscle contractile functions in healthy humans and rats and corrects metabolic derangements in T2DM. Therefore, it is likely to improve muscle contractile functions in T2DM as well. This study was designed to determine the effect of ...

Adductor spasmodic dysphonia is a vocal disorder of uncertain etiology with no satisfactory long-term treatment. Recently, injection of botulinum toxin (Botax) into the thyroarytenoid (TA) muscle has been used as an effective temporary treatment. A surgical counterpart to bilateral TA Botox injection is described in this article. Bilateral thyroarytenoid denervation was performed through a wind...

background: metabolic derangements in type 2 diabetes mellitus (t2dm) are likely to affect skeletal muscle contractile functions adversely. levo-carnitine improves muscle contractile functions in healthy humans and rats and corrects metabolic derangements in t2dm. therefore, it is likely to improve muscle contractile functions in t2dm as well. this study was designed to determine the effect of ...

Muscular tension dysphonia, episodic laryngospasm, globus, and cough may be considered to be hyperfunctional laryngeal symptoms. Suggested etiological factors for these symptoms include gastroesophageal reflux, psychological problems, and/or dystonia. We propose a unifying hypothesis that involves neural plastic change to brainstem laryngeal control networks through which each of the above etio...