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Syndromic Retinitis Pigmentosa.
Prog Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFA Man With Progressive Chorea and Abnormal Trunk Movements.
Cureus
June 2024
Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, IND.
Neuroacanthocytosis (NA) syndromes are a group of rare genetic disorders characterized by the presence of abnormally shaped red blood cells (acanthocytes) and the progressive degeneration of the basal ganglia, leading to various neurological and systemic symptoms. The "rubber man" gait, characterized by distinctive flexions of the neck (manifesting as head drops) and the trunk, is seen in advanced chorea-acanthocytosis. A 35-year-old male patient presented with progressive abnormal movements affecting his limbs and face, along with dysphagia resulting from involuntary protrusion of the tongue and biting of the cheeks and lips over the past three years.
View Article and Find Full Text PDFCase report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel variation from a family with consanguineous marriage.
Front Neurol
June 2024
Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive inherited syndrome with heterogeneous symptoms, which makes it a challenge for early diagnosis. The mutation of is considered intimately related to the pathogenesis of ChAc. To date, diverse mutation patterns of , consisting of missense, nonsense, and frameshift mutations, have been reported.
View Article and Find Full Text PDFA middle-aged Asian man had gait difficulty progressing over several years. His speech had gradually become slurred with involuntary tongue biting. He was the product of a consanguineous marriage with no other relevant family history.
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