The Experts below are selected from a list of 33 Experts worldwide ranked by ideXlab platform
L Dobrota - One of the best experts on this subject based on the ideXlab platform.
-
565 Reflection on a Case of Dopamine-Responsive Dystonia
Archives of Disease in Childhood, 2012Co-Authors: M L Neamtu, L DobrotaAbstract:Background Characteristic symptoms of Dopamine-Responsive Dystonia (DRD) are increased muscle tone and Parkinsonian features. Children with DRD are often misdiagnosed. The disorder responds well to treatment with Levodopa. Aim To reflect on a case of DRD. Method Case report of a 13 years old girl misdiagnosed with tetany. Results The girl was hospitalized for opisthotonus, positive Trousseau and Chvostek signs, diagnosed as tetany. The laboratory analysis have shown: normal serum of calcium (2.28 mmol/l), normal serum of magnesium (0.80 mmol/l), normal serum of phosphor (1.26 mmol/l), normal alkaline phosphatase (261 u/l) and normal PTH (27.9 pg/ml). Although the initial evolution was favorable (with intravenous calcium gluconate), the hypoparathyroidism diagnosis requiring reconsideration. The final diagnosis was DRD with long good evolution after Levodopa treatment. Referring to family history we learned that the patient have a cousin with the same symptoms. Conclusions The misdiagnosis results from the following similarities: increased muscle tone with opisthotonus, writer9s cramp with Trousseau sign, facial Dystonia with Chvostek sign and difficult speech (due to facial Dystonia) with patient illiteracy. All these similarities delayed the DRD diagnosis.
M L Neamtu - One of the best experts on this subject based on the ideXlab platform.
-
565 Reflection on a Case of Dopamine-Responsive Dystonia
Archives of Disease in Childhood, 2012Co-Authors: M L Neamtu, L DobrotaAbstract:Background Characteristic symptoms of Dopamine-Responsive Dystonia (DRD) are increased muscle tone and Parkinsonian features. Children with DRD are often misdiagnosed. The disorder responds well to treatment with Levodopa. Aim To reflect on a case of DRD. Method Case report of a 13 years old girl misdiagnosed with tetany. Results The girl was hospitalized for opisthotonus, positive Trousseau and Chvostek signs, diagnosed as tetany. The laboratory analysis have shown: normal serum of calcium (2.28 mmol/l), normal serum of magnesium (0.80 mmol/l), normal serum of phosphor (1.26 mmol/l), normal alkaline phosphatase (261 u/l) and normal PTH (27.9 pg/ml). Although the initial evolution was favorable (with intravenous calcium gluconate), the hypoparathyroidism diagnosis requiring reconsideration. The final diagnosis was DRD with long good evolution after Levodopa treatment. Referring to family history we learned that the patient have a cousin with the same symptoms. Conclusions The misdiagnosis results from the following similarities: increased muscle tone with opisthotonus, writer9s cramp with Trousseau sign, facial Dystonia with Chvostek sign and difficult speech (due to facial Dystonia) with patient illiteracy. All these similarities delayed the DRD diagnosis.
Diana Richardson - One of the best experts on this subject based on the ideXlab platform.
-
Dopamine-Responsive Dystonia After Spinal Surgery (P1.044)
Neurology, 2016Co-Authors: Diane Chan, Diana RichardsonAbstract:OBJECTIVE: To describe a group of patients who develop lower extremity Dystonia after spinal surgery that is responsive to dopaminergic agonists BACKGROUND: Dystonia is one of the most disabling movement disorders, causing twisting movements and abnormal postures that can severely limit mobility and function. Most patients with Dystonia have limited or no improvement with levodopa except for a small subset called the dopa-responsive Dystonias who have sustained response to dopaminergic drugs. A new subset of patients with delayed development of Dystonia after spinal surgery described here responded positively to dopaminergic drugs, suggesting a novel pathophysiology for this population. CASE SERIES: A group of patients were identified who had extensive spinal surgeries and developing focal Dystonias that caused impaired gait and mobility. These patients were initially maximally treated with muscle relaxants, anti-spasmodics and botulinum toxin injections with minimal response. Patients were then trialed on low dose sinemet 25/100 with significant improvement of Dystonia. Addition of dopaminergic agonists or monoamine oxidase B inhibitors sometimes further augmented the effect of sinemet. These patients underwent extensive testing to exclude known disorders that would cause secondary Dystonias such as Wilson’s disease, Parkinson’s disease, neuromuscular disease, and paraneoplastic syndromes. CONCLUSIONS: Treatment of Dystonia after spinal surgery with dopaminergic drugs should be considered if patient is not responding well to the typical armamentarium of muscle relaxants, anti-spasmodics and botulinum toxin injections. Disclosure: Dr. Chan has nothing to disclose. Dr. Richardson has nothing to disclose.
Maria Kinali - One of the best experts on this subject based on the ideXlab platform.
-
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Frontiers in neurology, 2019Co-Authors: Matthew Benger, Kshitij Mankad, Christos Proukakis, Nicholas D. Mazarakis, Maria KinaliAbstract:Mutations in the PARK2 gene have been implicated in the pathogenesis of early-onset Parkinson's disease. We present a case of movement disorder in a 4-year-old child from consanguineous parents and with a family history of Dopamine responsive Dystonia, who was diagnosed with early-onset Parkinson's disease based on initial identification of a pathogenic PARK2 mutation. However, the evolution of the child's clinical picture was unusually rapid, with a preponderance of pyramidal rather than extrapyramidal symptoms, leading to re-investigation of the case with further imaging and genetic sequencing. Interestingly, a second homozygous mutation in the FA2H gene, implicated in Hereditary spastic paraplegia, was revealed, appearing to have contributed to the novel phenotype observed, and highlighting a potential interaction between the two mutated genes.
Diane Chan - One of the best experts on this subject based on the ideXlab platform.
-
Dopamine-Responsive Dystonia After Spinal Surgery (P1.044)
Neurology, 2016Co-Authors: Diane Chan, Diana RichardsonAbstract:OBJECTIVE: To describe a group of patients who develop lower extremity Dystonia after spinal surgery that is responsive to dopaminergic agonists BACKGROUND: Dystonia is one of the most disabling movement disorders, causing twisting movements and abnormal postures that can severely limit mobility and function. Most patients with Dystonia have limited or no improvement with levodopa except for a small subset called the dopa-responsive Dystonias who have sustained response to dopaminergic drugs. A new subset of patients with delayed development of Dystonia after spinal surgery described here responded positively to dopaminergic drugs, suggesting a novel pathophysiology for this population. CASE SERIES: A group of patients were identified who had extensive spinal surgeries and developing focal Dystonias that caused impaired gait and mobility. These patients were initially maximally treated with muscle relaxants, anti-spasmodics and botulinum toxin injections with minimal response. Patients were then trialed on low dose sinemet 25/100 with significant improvement of Dystonia. Addition of dopaminergic agonists or monoamine oxidase B inhibitors sometimes further augmented the effect of sinemet. These patients underwent extensive testing to exclude known disorders that would cause secondary Dystonias such as Wilson’s disease, Parkinson’s disease, neuromuscular disease, and paraneoplastic syndromes. CONCLUSIONS: Treatment of Dystonia after spinal surgery with dopaminergic drugs should be considered if patient is not responding well to the typical armamentarium of muscle relaxants, anti-spasmodics and botulinum toxin injections. Disclosure: Dr. Chan has nothing to disclose. Dr. Richardson has nothing to disclose.