Genetic Testing for Beta-propeller Protein-Associated Neurodegeneration (BPAN) (P5.026)

Conclusions:BPAN is an extremely rare disease characterized by global developmental delay followed in young adulthood by progressive dystonia-parkinsonism. BPAN, like an increasing number of rare neurological diseases, can be identified through genetic testing. Routine genetic testing however often provides incomplete results. Understanding the limitations of genetic testing and pursuing testing based on a clear clinical presentation is essential for establishing the correct diagnosis.Disclosure: Dr. Machado has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Other II Source Type: research

Related Links:

Conditions:   Cerebral Palsy;   Chronic Pain Intervention:   Diagnostic Test: MRI Sponsors:   Hugo W. Moser Research Institute at Kennedy Krieger, Inc.;   Johns Hopkins University;   Mount Washington Pediatric Hospital;   Neurosurgery Pain Research Institute;   Cerebral Palsy Alliance Recruiting
Source: - Category: Research Source Type: clinical trials
Conditions:   Tuberous Sclerosis;   Epilepsy Intervention:   Sponsors:   Imagine Institute;   RWTH Aachen University;   Ruhr University of Bochum;   Medical University of Warsaw Recruiting
Source: - Category: Research Source Type: clinical trials
Condition:   Cerebral Palsy Interventions:   Other: Aquatic-based Plyometric Exercises;   Other: Standard Physical Therapy Sponsor:   Cairo University Completed
Source: - Category: Research Source Type: clinical trials
Condition:   Cerebral Palsy, Spastic Interventions:   Device: repetitive Transcranial Magnetic Stimulation;   Device: sham repetitive Transcranial Magnetic Stimulation;   Other: neurorehabilitation Sponsor:   Universitat de Lleida Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Curr Med Res Opin. 2022 Jan 19:1-2. doi: 10.1080/03007995.2021.2023394. Online ahead of print.NO ABSTRACTPMID:35045782 | DOI:10.1080/03007995.2021.2023394
Source: Current Medical Research and Opinion - Category: Research Authors: Source Type: research
We present the case of a patient with an aggressive course of this neoplasm treated with temsirolimus, who achieved 10-month control of this neoplasm accompanied by a discussion on other therapeutic possibilities.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Conclusion Low-energy fractures of the lower limb in non-ambulant children with cerebral palsy are relatively common and explained by the presence of reduced bone strength, in the absence of any other unexplained injuries or safeguarding concerns.
Source: Archives of Disease in Childhood - Education and Practice - Category: Pediatrics Authors: Tags: Editor's choice, Best practice and Fifteen Minute Consultations Best practice and Fifteen-minute consultations Source Type: research
European Journal of Human Genetics, Published online: 20 January 2022; doi:10.1038/s41431-021-01022-5A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease
Source: European Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
In this report, we present the case of a C...
Source: BMC Pediatrics - Category: Pediatrics Authors: Tags: Case report Source Type: research
Popliteal artery aneurysm (PAA) is a rare disease with a prevalence of 0.1-1%. Within the last years, endovascular repair of PAA (ER) has been performed more frequently despite the lack of high-level evidence compared to open surgery (OR). In 2014, the POPART registry was initiated to validate current treatment options in PAA repair. 

Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
More News: Brain | Cerebral Palsy | Child Development | Children | Dystonia | Genetics | Neurology | Rare Diseases