Surgery for patients with achondroplasia should involve careful preoperative preparation and the use of specialized positioning equipment.

Schizas grade C or D and a dural sac cross-sectional area (DSCA) smaller than 62 mm² were significantly associated with neurogenic claudication requiring surgical decompression in adults with ...

The genetic characteristics of the Spanish population with transthyretin amyloid cardiomyopathy (ATTR-CM) were recently analyzed in a study published in the journal Amyloid. Increasing evidence ...

Patients with Wilson disease are at risk of osteoporosis and osteopenia, particularly older, male patients and those with skeletal symptoms.

Serum transthyretin levels appear to correlate with worse prognosis in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), a study found.

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 ...

ATTR-CM results from the deposition of amyloid fibrils formed by misfolded TTR proteins in the myocardium. These deposits disrupt cardiac structure and function, however, the early cellular mechanisms ...

Researchers developed a new clinical score to estimate the probability of NMOSD in patients presenting with optic neuritis.

Jerry Lewis, one of the most famous comedians of the 20th century, was a tireless advocate for people with muscular dystrophy.

Media provides a platform for patients with rare diseases to share their personal journeys—both the challenges and the triumphs.

Two phase 3 clinical trials are recruiting patients with CIDP to evaluate the efficacy of riliprubart treatment.

Gene conversion from SMN1 to SMN2, which causes spinal muscular atrophy (SMA), appears to be a key genetic characteristic of the disease, a study found.