Bridging the Neurological Misdiagnosis Gap in Myotonic Dystrophies: A Comprehensive Review
Breaking Neurological Misdiagnosis in Dystrophies
DOI:
https://doi.org/10.32350/bsr.82.02Keywords:
clinical variability, diagnostic delay, molecular genetics, myotonic dystrophy (DM), triplet-repeat disorders, TP-PCR, nanopore sequencingAbstract
Background:
Myotonic dystrophy type 1 and 2 are hereditary and do not affect many body systems. The problems commence because of recurrent expansions of the (dystrophia myotonica protein kinase) DMPK and CCHC-type zinc finger, nucleic acid-binding protein (CNBP) genes. The folks are forced to live with muscle complications, including myotonia, weakening of the muscles as they get old, cataracts, irregular heart beats, and hormonal dynamics. When the science involved is not that difficult to understand, this nevertheless consumes the doctors a certain amount of time before it can even be named (that is mainly because of the similarity between the symptoms and other nerve or metabolic illnesses).
Objectives:
The review integrates the clinical, molecular, and diagnostic aspects of myotonic dystrophies to determine the factors that cause diagnostic error and to assess the steps further in detection methods and multidisciplinary diagnostic methods.
Methods:
The peer-reviewed literature was analyzed critically, and the focus was put on clinical variability, molecular testing techniques, and newer methods of diagnostic technology. Articles that were released in the years 1993 to 2024 were examined in their correlation with diagnostic delay, accuracy, and physician awareness.
Results:
Median time interval it takes between the first symptoms and a definite diagnosis was identified to be 6 in DM1 and up to 14 in DM2 that has been found to have negative relation with physician recognition (r = -0.78). The conventional electrophysiological methods possessed a high percentage of accuracy (60-70%), but triplet-primed PCR and nanopore sequencing had near-perfect sensitivities (>95% and approximately 99%, respectively). Molecular, electrophysiological, and histopathological areas have greatly interacted and contributed to further developing the perspective of diagnosis. The report has highlighted such challenges as inaccessibility to improved diagnostic solutions, widespread inconsistencies, and enhanced education of the medical staff.
Conclusion:
Clinical overlap, lack of awareness, and disparate access to molecular testing are the causes of persistent diagnostic errors in DM1 and DM2. Additional multidisciplinary collaboration, increased infrastructure of molecular diagnoses, and development of international diagnostic standards are important steps toward the realization of the timely identification and accurate management of myotonic dystrophies.
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Copyright (c) 2026 Noman Ahmed, Anas Saeed, Beena Gul, Danish Aizaz, Zeeshan Siddique, Haris Riaz Khan, Farakh Javed, Usman Ayub Awan
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