Early and accurate diagnosis of Gaucher disease can prevent poor outcome in children and adolescents affected by the rare illness, a new case report from China suggests. The case was described in the study, “Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease:…
Signs such as anemia or enlarged liver and spleen, and characteristics such as family history of Gaucher disease (GD) should lead clinicians to consider a GD diagnosis, according to a new study. The findings also revealed that lack of awareness is a major obstacle for timely diagnosis. The research, “…
Delegates from 48 countries have established the International Gaucher Alliance (IGA) with the goal of working toward “a world where all Gaucher disease patients have access to the treatment and care they need — and the possibility of a cure.” Meeting Oct. 15-17 in the Latvian capital of Riga,…
A newly identified mutation in the GBA gene causes errors in gene processing that trigger the development of Gaucher disease type 3 with progressive myoclonus epilepsy, a case report describes. The study, “Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss…
Researchers have found two new mutations associated with Gaucher disease type 1 (GD1) in four Indian adults. The researchers also reported, for the first time, the estimated carrier frequency of the most common Gaucher-causative mutation in the general Indian population. The study, “Biochemical and molecular characterization…
A patient with type 1 Gaucher disease (GD1) was diagnosed with corticobasal syndrome, a rare condition that causes some of the same symptoms seen in Parkinson’s disease, researchers report. The study, “Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of…
Three pediatric cases of Gaucher disease (GD) with unprecedented brain magnetic resonance imaging (MRI) changes mainly affecting the thalamus and/or dentate nucleus were recently described in a case report. The thalamus is a brain structure responsible for relaying information from sensory receptors to proper brain regions where it can…
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…
A case report on three family members with Gaucher disease (GD) underlines the importance of early diagnosis and treatment with enzyme replacement therapy (ERT) to prevent disease progression and improve quality of life. Researchers…
Motor and sensory-related brain networks do not work efficiently in children with type 1 Gaucher disease (GD), but this disrupted performance appears to remain stable over time, researchers report. Their findings were published in the study, “Altered brain functional network in children with type 1 Gaucher…
