Newborn screening remains an unevenly accessible resource.

Katherine Mathews, MD, leads the University of Iowa's Wellstone Muscular Dystrophy Specialized Research Center.

Jimmy Pollard is a former special education teacher who at one point found himself caring for 61 people with Huntington disease.

In the past few years alone, researchers have reported myriad cases of IgG4-RD being mistaken for some type of malignancy.

Generalized pustular psoriasis is the most serious form of psoriasis, with more than half of all patients with the condition needing hospitalization.

ATTR-PN is an incurable disorder in which the achieving of meaningful improvement remains an important clinical goal.

Genetic testing may be a prudent step in the HAE diagnostic process, but clinicians need to be confident of interpreting the results.

This article explores the impact of the EAN/PNS guideline on clinical practice for chronic inflammatory demyelinating polyneuropathy (CIDP).

Tafamidis has made a tremendous difference in the lives of patients with ATTR-CM.

Because of the significant disease burden of CLL, many patients struggle with issues related to health-related quality of life.