Tafamidis is linked to reduced all-cause mortality and a lower incidence of congestive heart failure exacerbations in ATTR-CM, a study found.

Using the new method, the researchers were able to successfully identify 15 cases of transthyretin mediated amyloid cardiomyopathy (ATTR-CM).

A multimodal approach combining vosoritide and limb lengthening led to gains in stature, gait, and emotional well-being in achondroplasia.

Conducting a RCT of the Accessercise app among adults with physical disabilities, including achondroplasia, is feasible and acceptable.

Neonatal anthropometric measurements may serve as indicators for the early detection of skeletal dysplasias, including achondroplasia.

Patients with neuromyelitis optica spectrum disorder (NMOSD) have a substantial risk of permanent disability even if they are treated with biologics, according to a new study published in the journal ...

The presence of intracutaneous amyloid deposition in asymptomatic TTR mutation carriers could be a predictive of ATTR-CM progression.

The change in extracellular volume is the only predictor of adverse outcome in patients with ATTR-CM treated with tafamidis, a study found.

Results of the ApproaCH trial showed that navepegritide improved AGV over placebo in pediatric patients with achondroplasia.

Once Fabry disease is suspected, the diagnostic approach differs by sex, although genetic testing is required to confirm the diagnosis in all individuals. 1 This distinction exists because some ...

Therapies for Gaucher disease generally fall into 2 main categories: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Neither ERT nor SRT effectively treats the neurological ...

Intravenous immunoglobulin therapy, a key treatment used in managing FNAIT, has been linked to the development of thrombocytopenia.