Bridging the Neurological Misdiagnosis Gap in Myotonic Dystrophies: A Comprehensive Review

2026-04-22T15:27:36+05:00

Background. Myotonic dystrophy types 1 (DM1) and 2 (DM2) occur due to pathogenic repeat expansions; DM1 due to a repeat expansion in the DMPK gene and DM2 due to a repeat expansion in the CNBP gene. Myotonic dystrophy (DM) is an autosomal dominant multisystem disorder characterized by increasing muscle weakness, myotonias (muscle stiffness), cataracts, abnormalities in cardiac conduction, and endocrine dysfunction. Although the molecular mechanisms that lead to DM are well defined, its diagnosis is often delayed by many years due to the broad phenotype of the conditions and their overlap with other neuromuscular and metabolic disorders.

Objectives. This review examines DM from a clinical, molecular, and diagnostic perspective in order to examine what causes diagnostic mistakes and how recent advances in DM detection techniques and multidisciplinary approaches to its diagnosis may have contributed to reducing these errors.

Methods. A scoping review of the literature has been conducted to determine what was known prior to 1993 about clinical variability, molecular testing methods, and new diagnostic methods for DM type 1 and type 2 (DM1 and DM2). We evaluated studies published in the peer-reviewed and non-peer-reviewed literature between January 1993 and June 2025, focusing specifically on studies that document delays in diagnosis, patterns of accuracy, and awareness of physicians. In addition, high-quality pre-print articles were also included when they provided significant new information regarding novel approaches to the diagnosis of DM1 and DM2 using the same type of research methodologies as typically used in peer-reviewed journals.

Results. Previous studies indicated that diagnostic delay was found for both DM1 (5-7 year delay) and DM2 (10-14 year delay), with some regional differences influenced by clinicians’ familiarity with these diagnoses. The utility of electrophysiological methods of diagnosis varies; however, both triplet-primed PCR and long-read sequencing provide increased accuracy with regard to identifying atypical and/or large repeat expansions. Other barriers to timely diagnosis include phenotypic variability, limited physician knowledge about these diagnoses outside of neuromuscular specialties, limited access to advanced molecular testing, and the lack of standardized diagnostic pathways.

Conclusion. Overlapping clinical features, inconsistent levels of physician awareness, and unequal access to molecular diagnostics within various healthcare settings are all factors that contribute to the persistent difficulty in diagnosing both DM1 and DM2. As such, it is critical to develop strong multidisciplinary collaboration, enhance the infrastructure for molecular diagnostics, and establish global harmonized standards for the diagnosis of DM in order to ensure that patients can be accurately identified promptly.

The Synthesis and Structural Characterization of Bioactive Chitosan Hydrogels from Lobster Shell Waste

2026-04-22T15:27:47+05:00

Background. Chitosan is a biopolymer derived from chitin, a polysaccharide abundantly present in the shells of marine crustaceans. It has good antimicrobial and biomedical applications. Chitosan plays a vital role in the production of hydrogels, which retain significant water-holding capacity and antimicrobial properties, making this biomaterial useful for treatment options, particularly in implant coatings and wound dressings. The current study focuses on the use of lobster shell waste to produce a bioactive, chitosan-based, hydrogel biomaterial with a wide range of biological applications. Lobsters provide a rich source of chitin, while the hydrogels act as carriers of pharmaceutical drugs. After structural characterization, these hydrogels were evaluated for their antibiofilm activity and dental applications.

Objective. The study focuses on the use of lobster shell waste as a source of chitosan hydrogels. Further, it evaluates the antibacterial and antibiofilm potential of the prepared chitosan hydrogels against dental bacterial isolates.

Method. Polysaccharide chitin from lobster shells was isolated by deproteinization, demineralization, and deacetylization to yield chitosan. For hydrogel preparation, the dispersing agent, tween-80, and 2% acetic acid were mixed. Water holding capacity, swelling, and dissolution were monitored for structural evaluation. Agar well diffusion assay was performed against bacterial isolates (Staphylococcus aureus, Bacillus sp., E. coli, and Pseudomonas pneumoneae). Antibiofilm and hemolytic assays were also performed for biofilm and biocompatibility purposes.

Results. Synthesized chitosan hydrogels showed good water retention (51.25%) and swelling (10.45%), with the highest inhibition zone of 22 mm against Staphylococcus aureus, along with strong antibiofilm activity and better biocompatibility. Chitosan hydrogels against dental isolates (DI2, DI5, DI8, DI9) exhibited activity comparable to pyodine, suggesting strain-dependent efficacy of the hydrogel.

Conclusion. The current study suggests chitosan hydrogel as an effective and promising coating material for dental implants

BioScientific Review

Bridging the Neurological Misdiagnosis Gap in Myotonic Dystrophies: A Comprehensive Review

The Synthesis and Structural Characterization of Bioactive Chitosan Hydrogels from Lobster Shell Waste