Life expectancy in DMD has improved over time. Previous estimates pointed to a life expectancy of 25 years, with more recent data reporting a life expectancy of 31.7 years (95% CI, 27.4-36.0). 3,4 A ...

Obstructive sleep apnea prevalence increased in children with achondroplasia beginning at school age (6-12 years) and remained elevated into adolescence. Recurrent otitis media may accompany ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Besides the year I received my diagnosis, 2024 has been the biggest year that primary biliary cholangitis (PBC) has affected me thus far.

Patients with MG who took C5 inhibitors saw greater reductions in concomitant OCS and NSIST use than did those who took efgartigimod. Rare Disease Advisor, a trusted source of medical news and feature ...

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 ...

Several factors influence the prognosis of gastrointestinal stromal tumors (GISTs), but the primary prognostic factors include the tumor staging and the tumor resectability. The staging for GISTs ...

ATTR-CM is a genetic condition characterized by the destabilization of transthyretin and subsequent misfolding and aggregation into amyloid fibrils that results in abnormal deposition of amyloid in ...

The recommendations were based on the available evidence, its certainty, and key judgments using the Grading of Recommendations Assessment, Development and Evaluation framework. New guidelines ...