At 4 weeks post-surgery, the patient's anterior tibialis and quadriceps strength had improved from 2 to 3 out of 5 preoperatively to 4 out of 5. Routine fluoroscopy and high-magnification ...

A qualitative matrix analysis allowed for the development of implementation strategies to improve the efficiency and effectiveness of the system. Researchers from the US identified an ideal system to ...

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 ...

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 ...

Despite the suboptimal imaging conditions, TTE and CMR measurements of LVEF demonstrated high agreement, with a mean difference of 1.6%. Transthoracic echocardiography (TTE) and cardiac magnetic ...

The project addresses a long-standing gap in the field: the lack of a clear human reference standard for muscle regeneration. A new research collaboration between muscular dystrophy organizations aims ...

The authors argue that the long-held label of "uniformly lethal" may no longer be appropriate and can inadvertently bias clinical decision-making. Homozygous achondroplasia is traditionally ...

ACTUS-101, AskBio’s ongoing trial of a different gene therapy candidate, will continue with existing participants. AB-1009, an adeno-associated virus-based investigational gene therapy for late-onset ...

The estimated 2022 incidence of overall ATTR amyloidosis, transthyretin-mediated amyloid cardiomyopathy (ATTR-CM), and transthyretin amyloid polyneuropathy (ATTR-PN) were 16.6, 12.7, and 3.5 cases per ...

Spesolimab is a humanized monoclonal immunoglobulin G1 antibody and is the first therapy to target the IL-36 pathway, a key driver of GPP disease processes. Spesolimab has an acceptable safety profile ...

I have a rare condition called alpha-1 antitrypsin deficiency (AATD), which can cause liver and lung problems, among other complications. My struggle has been primarily with my lungs, and as a result, ...