The Dystrophinopathies

Lee, Bo Hoon

doi:10.1212/con.0000000000001208

Cited by 1 publication

(1 citation statement)

References 63 publications

(125 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Myopathies are disorders primarily affecting the skeletal muscle, characterized by different signs and symptoms such as muscle weakness, cramps, stiffness, and pain. They can be caused by genetic defects or manifest as acquired forms, either isolated or in association with systemic diseases [1][2][3]. Cardiac or respiratory involvement [4] is also frequent in several myopathies.…”

Section: Introductionmentioning

confidence: 99%

Hospital admissions from the emergency department of adult patients affected by myopathies

Monforte,

Torchia,

Bortolani

et al. 2024

Euro J of Neurology

View full text Add to dashboard Cite

Background and purposeMyopathies are associated with classic signs and symptoms, but also with possible life‐threatening complications that may require assistance in an emergency setting. This phenomenon is understudied in the literature. We aimed to assess the presentation, management, and outcomes of clinical manifestations potentially related to a muscle disorder requiring referral to the adult emergency department (ED) and hospitalization.MethodsAnonymized patient data retrieved using the International Classification of Diseases, Ninth Revision codes related to muscle disorders over 4 years were retrospectively analyzed. Medical reports were evaluated to extract demographic and clinical variables, along with outcomes. Two groups were defined based on the presence (known diagnosis [KD] group) or absence (unknown diagnosis [UD] group) of a diagnosed muscle disorder at arrival.ResultsA total of 244 patients were included, 51% of whom were affected by a known myopathy, predominantly limb‐girdle muscular dystrophies and myotonic dystrophies. The main reasons for ED visits in the KD group were respiratory issues, worsening of muscle weakness, and gastrointestinal problems. Heart complications were less prevalent. In the UD group, 27 patients received a new diagnosis of a specific primary muscle disorder after the ED access, mostly an inflammatory myopathy. Death during hospitalization was recorded in 26 patients, with a higher rate in the KD group and in patients affected by mitochondrial and inflammatory myopathies. Sepsis and dyspnea were associated with increased death risk.ConclusionsRespiratory complications are the most common reason for myopathic patients accessing the ED, followed by gastrointestinal issues. Infections are severe threats and, once hospitalized, these patients have relatively high mortality.

show abstract

Section: Introductionmentioning

confidence: 99%