Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…
News
A specific haplotype — or genetic signature inherited from one parent — was identified as a risk factor for the development of generalized late-onset myasthenia gravis (LOMG) in the Italian population. A second haplotype was newly identified as having a potential…
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…
Blood levels of certain immune cells, called follicular helper T-cells (Tfh), are abnormally high in patients with myasthenia gravis (MG) who have autoantibodies against the acetylcholine receptor, a study shows. Study results showed that cells released inflammatory molecules and were linked with more severe disease, supporting their role as a…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
Patients with myasthenia gravis (MG) who have one copy of an FCGRT gene variant have lower levels of circulating antibodies called immunoglobulin G (IgG) and are more likely to be resistant to intravenous immunoglobulin (IVIg) treatment, a small study found. The…
Early reduction of steroid and immunosuppressant therapy during Soliris (eculizumab) treatment to alleviate myasthenia gravis (MG) symptoms may result in disease aggravation and pure red cell aplasia (PRCA), according to a Japanese case study. PRCA is a form…
Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
A lesser known variety of myasthenia gravis (MG), called double-seropositive, appears to be a subtype of MuSK-antibody positive MG, a single-site study in China reports. Recognizing this subtype could help in properly diagnosing patients, allowing for better treatment outcomes, its scientists said. Their study, “AChRAb and…
People with myasthenia gravis (MG), particularly those with late-onset and thymoma-associated MG — disease linked to a tumor in the thymus gland — have a higher risk of developing other types of cancer, according to an analysis of a Swedish national registry. The results also…
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