Results 81 to 90 of about 13,732 (248)

Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

JIMD Reports, 2020
Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10‐month‐old infant who was symptomatic since 5 months of age and who received ...
Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny   +2 more
doaj   +1 more source

A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders [PDF]

, 2017
Psychiatric symptoms are an increasingly recognised feature of movement disorders. Recent identification of causative genes and autoantibodies has allowed detailed analysis of aetiologically homogenous subgroups, thereby enabling determination of the ...
Dale, R.C., Heyman, I., Kurian, M.A., Lorentzos, M.S., Owen, Michael J., Peall, Kathryn J., Tijssen, M.A.J.   +6 more
core   +3 more sources

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Specific orofacial problems experienced by musicians [PDF]

, 2002
Background: Patients who play musical instruments (especially wind and stringed instruments) and vocalists are prone to particular types of orofacial problems. Some problems are caused by playing and some are the result of dental treatment.
Barkvoll P., Bergstrom J., Blum J., Brandfonbrener AG., Brattstrom V., Fuhrimann S., Harvell J., Herman E., Hollien H., Howard JA, Lederman RJ., Lockwood AH., Middlestadt SE, Mortenson GC, Porter MM., Porter MM., Porter MM., Porter MM., Porter MM., Potter PJ., Prensky HD, Proffit WR., Rindisbacher T., Shoup D., Taddey JJ., Zimmers PL   +25 more
core   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms [PDF]

, 2017
Dystonia is one of the most common movement disorders, a core component of the isolated and combined dystonias as well as contributing to the motor phenotype of several neurodegenerative movement disorders, such as Parkinson’s disease and Huntington’s ...
Peall, Kathryn J, Robertson, Neil
core   +1 more source

Anatomical correlates of blepharospasm

Translational Neurodegeneration, 2012
Background Focal dystonia is a neurological disorder characterized by unwanted muscle spasms. Blepharospasm is a focal dystonia producing an involuntary closure of the eyelid. Its etiology is unknown.
Horovitz Silvina G, Ford Anastasia, Najee-ullah Muslimah, Ostuni John L, Hallett Mark   +4 more
doaj   +1 more source

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

Frontiers in Pediatrics
Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia.
Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee, Moon Sung Park, Young Bae Sohn   +6 more
doaj   +1 more source

Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center [PDF]

, 2011
Neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular ...
Calado, E, Duarte, S, Rodrigues, R, Sequeira, S   +3 more
core  

Cervico-facial dystonia as depicted in sculpture before its scientific description

Revue Neurologique, 2019
The authors describe a sculpture from Daumier, called "Le Hargneux" (The peevish one), whose physiognomic study evokes hitherto unrecognized cranial-cervical dystonia. It is probably the first representation of dystonia in sculpture, before its scientific identification by Horatio Wood, in 1887.
Sellal, F., Frismand, S.
openaire   +4 more sources