Results 31 to 40 of about 781,361 (246)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Gangfuß A, Gowda VK, Natera-de Benito D, Munot P, Vanegas M, Darling A, Reutlinger C, Carrera-Garcia L, Wunderlich G, Kölbel H, Stüve B, Muhmann D, Monfort Belenguer L, Barca DG, Reddy C VS, Srinivasan VM, Anguita CM, Jungbluth H, Dafsari HS, Rossor T, Böhm J, Schara-Schmidt U, Roos A.   +22 more
europepmc   +2 more sources

Adult-Onset Idiopathic Cervical Dystonia [PDF]

, 2022
Adult-onset idiopathic focal dystonia is the most common type of primary dystonia, and adult-onset idiopathic cervical dystonia (AOICD) is its most prevalent phenotype.
Shameer Rafee, Michael Hutchinson, Mahmood Al-Hinai   +2 more
core   +1 more source

Oromandibular Dystonia: An Update for Dental Professionals [PDF]

, 2022
Oromandibular Dystonia (OMD) is a type of focal dystonia which affects the masticatory, cervical, facial, eyelid, laryngeal, and pharyngeal muscles. OMD patients may consult dentists with involuntary movement or spasm of the lips, tongue, involuntary jaw
Shruthi Hegde, Vidya Ajila
core   +2 more sources

Service-based survey of dystonia in Munich [PDF]

, 2002
We performed a service-based epidemiological study of dystonia in Munich, Germany. Due to favourable referral and treatment patterns in the Munich area, we could provide confident data from dystonia patients seeking botulinum toxin treatment.
Gasser, T., Y. Ben-Shlomo, B. Conrad, Ceballos-Baumann, Andres, E. Castelon Konkiewitz, Warner, T., T. Warner, T. Gasser, I. Trender-Gerhard, Ben-Shlomo, Y., C. Kamm, A.O. Ceballos-Baumann, Konkiewitz, E. C., Trender-Gerhard, I., Conrad, B., Kamm, C.   +15 more
core   +1 more source

BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing

Movement Disorders Clinical Practice, 2016
Elizabeth Berry-Kravis, Rong Mao, Deborah A. Hall   +2 more
exaly   +2 more sources

Long-Term Efficacy and Safety of Chronic Globus Pallidus Internus Stimulation in Different Types of Primary Dystonia [PDF]

, 2009
Background: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) offers a very promising therapy for medically intractable dystonia. However, little is known about the long-term benefit and safety of this procedure. We therefore performed a
Voges, J., Steude, U., Zeitler, K., Sturm, V., Bötzel, Kai, Mehrkens, Jan Hinnerk, Schnitzler, A.   +6 more
core   +1 more source

Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech

Frontiers in Neurology, 2021
Objective: KMT2B-related dystonia is a progressive childhood-onset movement disorder, evolving from lower-limb focal dystonia into generalized dystonia.
Maria Abel, Robert Pfister, Iman Hussein, Fahd Alsalloum, Christina Onyinzo, Simon Kappl, Michael Zech, Michael Zech, Walter Demmel, Martin Staudt, Manfred Kudernatsch, Manfred Kudernatsch, Steffen Berweck, Steffen Berweck   +13 more
doaj   +1 more source

Use of Alleviating Maneuvers for Periocular Facial Dystonias [PDF]

JAMA Ophthalmology, 2016
Patients with benign essential blepharospasm or hemifacial spasm are known to use botulinum toxin injections and alleviating maneuvers to help control their symptoms. The clinical correlates between the use of botulinum toxin injections and the use of alleviating maneuvers are not well established.To determine whether the use of alleviating maneuvers ...
Caroline L S, Kilduff, Edward J, Casswell, Tahrina, Salam, Dov, Hersh, Santiago, Ortiz-Perez, Daniel, Ezra   +5 more
openaire   +2 more sources

Blepharospasm as a tardive manifestation of COVID-19 disease: A case report

Indian Journal of Ophthalmology, 2023
We report three cases of blepharospasms developed after a symptomatic COVID-19 infection, in order to describe a possible association between COVID-19 infection and essential blepharospasm. Blepharospasm could represent a late sign of COVID-19 infection (
Roberta Farci, Maurizio Fossarello, Arturo Carta   +2 more
doaj   +1 more source

Outcomes of a regional variant of botulinum toxin type A in the treatment of essential blepharospasm and hemifacial spasms: A retrospective study

Indian Journal of Ophthalmology, 2021
Purpose: The aim of this study was to report the outcomes of a regional variant of botulinum toxin type A (BtA) in essential blepharospasm and hemifacial spasm. Methods: The medical records of all patients with facial dystonias, who received at least one
V Maneksha, Sabyasachi Chakrabarty, Meghana Tanwar, Madhavi Ramanatha Pillai   +3 more
doaj   +1 more source