Importance of Electrodiagnostic Testing Prior to a Tethered Cord Release in a Patient with Overlapping Symptoms of Charcot-Marie-Tooth Disease
Bibliographic record
Abstract
Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder causing a symmetric, slowly progressive distal neuropathy of the legs and arms. Tethered cord syndrome (TCS) encompasses a constellation of neurological, gastrointestinal, musculoskeletal, and urinary abnormalities resulting from spinal cord traction. The signs and symptoms of CMT and TCS may be very similar. Electrodiagnostic (EDX) studies are crucial in differentiating between these two conditions. We describe a 20-year-old woman with a history of low back pain, right leg tingling, and difficulty in walking. She experienced bowel and urinary incontinence 11 years earlier as well as back pain, in-toeing gait, and difficulties with balance and coordination. Urodynamic studies and cervical, thoracic, and lumbar magnetic resonance imaging (MRI) were normal, with the latter demonstrating the tip of the conus medullaris in the normal position at the L1-2 interspace and the filum terminale demonstrating no thickening or fatty infiltration. Despite the absence of radiological evidence of TCS, she underwent a tethered cord release (TCR) with improvement of the pain postoperatively. Two years later, the back pain recurred with increasing pain, paresthesia, and weakness of the lower extremities with frequent trip and fall episodes. EDX studies of the lower extremities were requested. Clinical findings included weakness of flexion and extension of the toes as well as dorsiflexors of the ankles bilaterally. The knee and ankle reflexes were absent bilaterally. EDX testing of the lower extremities were non-diagnostic due to loss of sensory and compound muscle action potentials. EDX studies of the upper extremities suggested a demyelinating polyneuropathy, most likely CMT disease. Genetic studies subsequently confirmed CMT type 1A (CMT1A) disease. Ensuing EDX studies on the patient's father and brother also suggested CMT1A disease. Physicians should be aware of the overlapping signs and symptoms of CMT disease and TCS. Performing comprehensive EDX studies prior to a TCR particularly in cases when a lumbar MRI is negative may prove valuable in identifying cases of CMT disease with subsequent confirmation by genetic testing.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.005 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".