Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated 117 patients with spasmodic torticollis who had visited us to seek for appropriate treatment in these 14 years. They were 71 men and 46 women, aged 44 +/- 14 (mean +/- SD) years, and suffered from this disorder during 4 +/- 5 years, maximum 26 years. Involuntary abnormal head positions, not only torticollis but also laterocollis and antero- or retrocollis, were contained in this study. Most of them were torticollis due to idiopathic focal dystonia. One or more courses of alcoholization therapy was accomplished in 82 patients who wished to be done. This therapy course consisted of about ten times totally of 99% ethanol injection to the motor point of two most hypertonic neck muscles, either side of the sternocleidomastoideus and the opposite side of the splenius in most cases, repeated every 2 or 3 weeks. One patient received as many as 98 times of this injection and resolved completely. Training to reinforce antagonistic muscles was also instructed. Twenty-one patients (26%) were resolved completely after this treatment. Fifty-four patients (66%) were ameliorated and satisfied partially, but 18 of them relapsed in 1 to 4 years after the treatment and were obliged to repeat one more course of this treatment. On the other hand, in five patients their torticollis improved under certain drug therapy alone. Sixteen patients (14%) gave up to continue the treatment within two months, and 14 patients (12%) dropped out before starting the therapy. This alcoholization therapy resulted in amelioration of torticollis in about 90% of the patients with a long effective period. Nevertheless, this alcohol injection is painful, and requires 5 to 6 months to be completed. In 2 patients who had already received many times of this injection, sudden hoarseness occurred one day immediately after the alcohol injection to the sternocleidomastoideus. This complication was presumably brought about by the unexpected infiltration of alcohol to the laryngeal area, located posterior to that muscle. They recovered in two months, but careful attention should be paid to the adverse effects. If botulinum toxin be available also in our country, we will be able to have another choice of therapy and the treatment of this disorder will become easier.
 ...
PMID:[Therapeutic outcome of spasmodic torticollis]. 1143 39

Meige's Syndrome is a combination of blepharospasm and oromandibular dystonia (cranial dystonia) that can affect the pharyngeal and respiratory musculature. We are reporting a case of a 61 year-woman with this diagnosis who presented a laryngeal stenosis due to sinequia on posterior commissure. The symptoms were an association of hoarseness and dyspnea with a clear movement in all pharyngo-laryngeal structures because of her illness. She was operated by Laser surgery with section of such sinequia and going on treatment in Neurology.
 ...
PMID:[Posterior laryngeal stenosis in patient with Meige's Syndrome]. 1538 86

Lipoid proteinosis (LP) is an autosomal recessive disease that typically presents with papular, verrucous, poxlike, or acneiform scars and lesions and hoarseness. LP was recently mapped to the 1q21 locus and shown to result from mutations in the extracellular matrix protein 1 gene (ECM1). Epilepsy, mental retardation, and hippocampal calcifications can occur. The authors describe a patient with generalized dystonia caused by striatal calcifications.
 ...
PMID:Generalized dystonia and striatal calcifications with lipoid proteinosis. 1559 73

Tardive laryngeal dystonia, a rare form of dystonic syndrome, was only reported to be induced by typical antipsychotics. Here, we report one case of ziprasidone-induced tardive laryngeal dystonia in a schizophrenic female patient, who showed dysphonia, hoarseness and dyspnea after taking ziprasidone 120 mg/day for 8 months. These symptoms were significantly improved after discontinuing ziprasidone and increasing the dose of trihexyphenidyl for 1 week. Although atypical antipsychotics are associated with a lower risk of extrapyramidal symptoms, caution should be taken for any tardive dystonic movement when using these medications.
 ...
PMID:Ziprasidone-induced tardive laryngeal dystonia: a case report. 1843 61

Objective This guideline provides evidence-based recommendations on treating patients who present with dysphonia, which is characterized by altered vocal quality, pitch, loudness, or vocal effort that impairs communication and/or quality of life. Dysphonia affects nearly one-third of the population at some point in its life. This guideline applies to all age groups evaluated in a setting where dysphonia would be identified or managed. It is intended for all clinicians who are likely to diagnose and treat patients with dysphonia. Purpose The primary purpose of this guideline is to improve the quality of care for patients with dysphonia, based on current best evidence. Expert consensus to fill evidence gaps, when used, is explicitly stated and supported with a detailed evidence profile for transparency. Specific objectives of the guideline are to reduce inappropriate variations in care, produce optimal health outcomes, and minimize harm. For this guideline update, the American Academy of Otolaryngology-Head and Neck Surgery Foundation selected a panel representing the fields of advanced practice nursing, bronchoesophagology, consumer advocacy, family medicine, geriatric medicine, internal medicine, laryngology, neurology, otolaryngology-head and neck surgery, pediatrics, professional voice, pulmonology, and speech-language pathology. Action Statements The guideline update group made strong recommendations for the following key action statements (KASs): (1) Clinicians should assess the patient with dysphonia by history and physical examination to identify factors where expedited laryngeal evaluation is indicated. These include, but are not limited to, recent surgical procedures involving the head, neck, or chest; recent endotracheal intubation; presence of concomitant neck mass; respiratory distress or stridor; history of tobacco abuse; and whether the patient is a professional voice user. (2) Clinicians should advocate voice therapy for patients with dysphonia from a cause amenable to voice therapy. The guideline update group made recommendations for the following KASs: (1) Clinicians should identify dysphonia in a patient with altered voice quality, pitch, loudness, or vocal effort that impairs communication or reduces quality of life (QOL). (2) Clinicians should assess the patient with dysphonia by history and physical examination for underlying causes of dysphonia and factors that modify management. (3) Clinicians should perform laryngoscopy, or refer to a clinician who can perform laryngoscopy, when dysphonia fails to resolve or improve within 4 weeks or irrespective of duration if a serious underlying cause is suspected. (4) Clinicians should perform diagnostic laryngoscopy, or refer to a clinician who can perform diagnostic laryngoscopy, before prescribing voice therapy and document/communicate the results to the speech-language pathologist (SLP). (5) Clinicians should advocate for surgery as a therapeutic option for patients with dysphonia with conditions amenable to surgical intervention, such as suspected malignancy, symptomatic benign vocal fold lesions that do not respond to conservative management, or glottic insufficiency. (6) Clinicians should offer, or refer to a clinician who can offer, botulinum toxin injections for the treatment of dysphonia caused by spasmodic dysphonia and other types of laryngeal dystonia. (7) Clinicians should inform patients with dysphonia about control/preventive measures. (8) Clinicians should document resolution, improvement or worsened symptoms of dysphonia, or change in QOL of patients with dysphonia after treatment or observation. The guideline update group made a strong recommendation against 1 action: (1) Clinicians should not routinely prescribe antibiotics to treat dysphonia. The guideline update group made recommendations against other actions: (1) Clinicians should not obtain computed tomography (CT) or magnetic resonance imaging (MRI) for patients with a primary voice complaint prior to visualization of the larynx. (2) Clinicians should not prescribe antireflux medications to treat isolated dysphonia, based on symptoms alone attributed to suspected gastroesophageal reflux disease (GERD) or laryngopharyngeal reflux (LPR), without visualization of the larynx. (3) Clinicians should not routinely prescribe corticosteroids for patients with dysphonia prior to visualization of the larynx. The policy level for the following recommendation about laryngoscopy at any time was an option: (1) Clinicians may perform diagnostic laryngoscopy at any time in a patient with dysphonia. Disclaimer This clinical practice guideline is not intended as an exhaustive source of guidance for managing dysphonia (hoarseness). Rather, it is designed to assist clinicians by providing an evidence-based framework for decision-making strategies. The guideline is not intended to replace clinical judgment or establish a protocol for all individuals with this condition, and it may not provide the only appropriate approach to diagnosing and managing this problem. Differences from Prior Guideline (1) Incorporation of new evidence profiles to include the role of patient preferences, confidence in the evidence, differences of opinion, quality improvement opportunities, and any exclusion to which the action statement does not apply (2) Inclusion of 3 new guidelines, 16 new systematic reviews, and 4 new randomized controlled trials (3) Inclusion of a consumer advocate on the guideline update group (4) Changes to 9 KASs from the original guideline (5) New KAS 3 (escalation of care) and KAS 13 (outcomes) (6) Addition of an algorithm outlining KASs for patients with dysphonia.
 ...
PMID:Clinical Practice Guideline: Hoarseness (Dysphonia) (Update). 2955 30