Tag: Rare Diseases
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EPG5 Gene Errors Linked to Vici Syndrome and Late-Life Parkinson’s and Dementia Risks
New Evidence Connects EPG5 Mutations Across the Lifespan Researchers are uncovering a surprising link between a gene known for causing a severe infant disorder and neurodegenerative diseases that emerge much later in life. In a study published in the Annals of Neurology, scientists demonstrated that errors in the EPG5 gene, already associated with Vici syndrome,…
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Diaphragmatic Endometriosis: Limerick Woman’s Battle and Hope
Unseen pain,diagnosis delayed Lisa-Claire Walsh’s health journey began in 2015 with neck and shoulder pain that seemed ordinary at first. Over years, the pain intensified, yet medical scans and consultations with orthopaedic surgeons and neurologists failed to reveal a clear cause. “I went to a neurologist, pain consultant, had MRIs, everything, but the pain was…
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Living with OTC Deficiency: Rachelle Yeo’s Journey
Understanding OTC Deficiency Ornithine transcarbamylase (OTC) deficiency is a rare hereditary metabolic disorder that affects how the body eliminates ammonia, a byproduct of protein breakdown. This condition primarily impairs the urea cycle—the process that converts ammonia into urea for excretion through urine. Individuals with OTC deficiency face serious health risks as high levels of ammonia…
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Searching for Answers in Wales’ Rare Disease Cluster
Introduction to DRPLA Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a rare and progressive neurological disorder that has recently gained attention in South Wales due to a disturbing cluster of cases. Once believed to predominantly affect individuals of Japanese descent, a groundbreaking study in 2007 revealed a relatively high prevalence of DRPLA in Wales, particularly…
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Understanding DRPLA: A Rare Disease Impacting Families in Wales
The Rare Condition: DRPLA Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurological disorder that has recently gained attention due to a noticeable cluster of cases in South Wales. Initially thought to primarily impact individuals of Japanese descent, studies have identified a significant prevalence in Welsh communities. This article explores the emotional and physical toll DRPLA takes…
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Uncovering DRPLA: The Heartbreaking Impact of a Rare Disease in Wales
Understanding DRPLA: A Rare Neurological Disorder Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited and progressive neurological disorder that has tragically impacted the lives of families in South Wales. Originally believed to primarily affect individuals of Japanese descent, a pivotal 2007 research study revealed a concerning prevalence of this condition in Wales, leading to a growing cluster…