Multisystem Features in Adult-Onset Myotonic Dystrophy Type 1: An Integrative Case Analysis
Bibliographic record
Abstract
Myotonic dystrophy type 1 (DM1), or Steinert disease, is the most common adult-onset muscu-lar dystrophy, characterized by multisystem involvement affecting neuromuscular, cardiac, endocrine, respiratory, and cognitive domains. Clinical severity and phenotypic variability cor-relate with the size of the CTG repeat expansion in the DMPK gene. Adult-onset DM1 frequently remains underdiagnosed, particularly in individuals presenting with prominent neurocogni-tive or psychiatric manifestations. We report the case of a 56-year-old male diagnosed with DM1 in 2025 following genetic confirmation of a DMPK allele carrying >50 CTG repeats. The clinical examination revealed marked myotonia, distal lower-limb muscle atrophy, bilat-eral paraparesis (Medical Research Council grade 4/5; MRC 4/5), steppage gait, and pronounced idiomyotonic respons-es. Neurocognitive and psychiatric evaluation demonstrated a moderate neurocognitive disorder, with a Mini-Mental State Examination (MMSE) score of 22/30 and a Montreal Cognitive Assessment (MoCA) score of 19/30, alongside execu-tive dysfunction, depressive disorder with organic features, sleep disturbances, and episodic vertigo. Electromyography (EMG) confirmed myotonic discharges, while brain magnetic resonance imaging (MRI) demonstrat-ed moderate cerebral atrophy with Fazekas grade 2 leukoencephalopathy. Electrocardiography (ECG) showed a first-degree atrioventricular block. Muscle biopsy was not performed due to limited technical resources. The patient's comor-bidities included chronic liver disease, hepatitis B, benign prostatic hyperplasia, transient ischemic attack, and obstruc-tive sleep apnea. Therapeutic management consisted of neuropathic pain agents, neurotrophic therapy, anti-inflammatory and antivertigo medication, and a structured physiotherapy program. This case highlights the multisystemic complexity of adult-onset DM1 and emphasizes the importance of integrating genetic testing, neurocognitive evaluation, and comprehensive systemic assessment into routine diagnostic workflows. Cognitive and psychiatric manifestations frequently underestimated in clinical practice can markedly contribute to morbidity and should therefore be systematically evaluated in all adults suspected of DM1.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.003 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".