Childhood-onset striatonigral degeneration is a rare genetic disorder that robs children of the ability to walk and speak by ...

Patients with trimethylaminuria, or "fish odor syndrome," make too much of a chemical with a strong fishy smell.

Medically reviewed by Nicholas R. Metrus, MD Huntington’s disease is a hereditary disorder that causes a progressive decline ...

Wilson's disease (WD) is a rare autosomal recessive genetic disorder that can be treated with medications. The lack of a single, specific diagnostic ...

—Before receiving a kidney transplant, patients with autosomal dominant polycystic kidney disease often undergo a nephrectomy. But there hasn’t been clear guidance on who’s a good candidate ...

By Guest Columnist Dr. Stephanie Duguid Our most recent speaker through the Mississippi Health Ambassador Initiative was Dr.

Outcomes in pregnancies with rare autosomal aneuploidies (RAAs) are poorly characterized, with most studies having small sample sizes. Here, we describe outcomes and management in a large cohort of ...

The following is a summary of “Long-term effect of tolvaptan treatment on kidney function and volume in patients with ADPKD,” ...

Alkaptonuria is characterised by a black urine discolouration that has no cure Learn all about its causes symptoms diagnosis ...

Researchers have found in a new study that asymptomatic kidney stones are linked to a faster decline in kidney function in patients with autosomal dominant polycystic kidney disease (ADPKD).