The ratio of posterior wall thickness to the minimum voltage of QRS complexes in limb leads and several parameters derived from electrocardiography could independently predict ATTR-CM. The ratio of ...

Between 21.4% and 57.8% of patients from a real-world ATTR-CM cohort would have been eligible to take part in clinical trials testing disease-modifying therapies. Inclusion and exclusion criteria used ...

POEMS syndrome remains a diagnostic challenge due to its variable presentation and overlap with other demyelinating neuropathies, such as CIDP. Cases of polyneuropathy, organomegaly, endocrinopathy, ...

Diagnosis of neurofibromatosis type 1 (NF1) requires a combination of clinical assessment, genetic testing, and imaging studies. 1 NF1 is a rare genetic disorder characterized by the development of ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

Milo Caseri, 6, and college athlete Caleb Wheatland at an Uplifting Athletes event in College Park, Maryland (Photo courtesy of Whitney Caseri) The Uplifting Experiences program hosted 31 events with ...

In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...

Several factors can contribute to the suppression of bone marrow erythropoiesis in infants with HDFN, including maternal antibodies, intrauterine transfusion, and simple transfusion. The suppression ...

A patient presented with task-related isolated transient weakness in her right hand, which started 15 years before and lasted for 9 years without worsening or improvement. Distal myasthenia gravis (MG ...

(L-R) Rare Disease Advisor senior correspondent Larry Luxner, patient columnists Alithea Athans, Tara Keith and Tom Bartlett, and director of advocacy relations Vera Luxner (Photo by Riya Ajmera) ...

Nusinersen, an SMN2-targeted antisense oligonucleotide drug administered by intrathecal injection, was able to improve motor function and survival. Treatment with nusinersen can improve motor function ...

Frank Rivera, president of Stronger Than Sarcoidosis, speaks at the 2024 World Orphan Drug Congress USA in Boston, Massachusetts (Photo by Manuela Callari, PhD) Prolonged uncertainty about the future ...