Astasia-Abasia Syndrome

April 24, 2025

Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report
Case Presentation A Sudanese girl, aged 14, presented at a local hospital with a complex clinical picture characterized by childhood-onset parkinsonism, dystonia, and significant muscle wasting. The medical history of the patient revealed that she had been experiencing progressive motor difficulties, which began in early childhood. These issues were compounded by dystonic posturing and rigidity,… Read more: Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report
Tactile-Induced Catalepsy for Motor FND: A Feasibility Single-Case Experimental Study and Standardized Protocol
Study Overview This study aimed to explore the feasibility of using tactile stimulation as a method to induce catalepsy in a single case of motor Functional Neurological Disorder (FND). FND is characterized by neurological symptoms that are not consistent with underlying medical conditions, often resulting in significant impairment of motor function. The research was motivated… Read more: Tactile-Induced Catalepsy for Motor FND: A Feasibility Single-Case Experimental Study and Standardized Protocol
Embedding mental health within paediatrics: A comprehensive consultation consultation-liaison psychiatry service at The Children’s Hospital at Westmead
Service Model The consultation-liaison psychiatry service at The Children’s Hospital at Westmead employs an integrated service model designed to address the mental health needs of pediatric patients effectively. This model recognizes the critical interplay between physical and psychological health in children and adolescents, facilitating a holistic approach to patient care. The service operates with a… Read more: Embedding mental health within paediatrics: A comprehensive consultation consultation-liaison psychiatry service at The Children’s Hospital at Westmead
Empowering recovery: the role of self-management in motor-functional neurological disorder
Empowering Self-Management Self-management is an essential concept in the context of neurological disorders, particularly those affecting motor function. This approach actively involves patients in their own care, equipping them with the tools and knowledge needed to manage their conditions effectively. Empowerment in self-management enables individuals to take control of their health outcomes, leading to improved… Read more: Empowering recovery: the role of self-management in motor-functional neurological disorder
Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report
Study Overview The study focuses on a unique case involving a young girl from Sudan who presented with a combination of childhood-onset parkinsonism, dystonia, and severe muscle wasting. These symptoms are indicative of significant neurological and muscular dysfunction. As part of the case investigation, the researchers aimed to identify the underlying genetic causes of the… Read more: Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report

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