ArticleNeurogenetics2026
Charcot-Marie-Tooth type 4 C misdiagnosed as CIDP: electrodiagnostic pitfalls and genetic confirmation.
Article in Neurogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
BACKGROUND AND
objectiveCharcot-Marie-Tooth disease type 4 C (CMT4C) is a hereditary neuropathy caused by recessive mutations in the SH3TC2 gene. Due to overlapping symptoms with acquired conditions like chronic inflammatory demyelinating polyneuropathy (CIDP), misdiagnosis is common. This study examines the clinical and electrophysiological profiles of five patients initially misdiagnosed with CIDP but later confirmed to have CMT4C.
methodsData were collected on demographics, clinical features, nerve conduction studies, and ultrasonographic findings. Patients underwent genetic testing to identify pathogenic SH3TC2 variants.
resultsAll patients exhibited early-onset symptoms, including progressive muscle weakness, pes cavus, and spinal deformities; some had a positive family history of neuropathy, while others appeared to be sporadic cases. Nerve conduction studies revealed diminished motor and sensory amplitudes and conduction velocities, with conduction block or temporal dispersion, subsequently reappraised as temporal dispersion-related pseudo-block in the tibial nerves. Genetic testing confirmed SH3TC2 mutations in all cases. Nerve ultrasonography showed an increase in cross-sectional area (CSA), indicating nerve hypertrophy, a characteristic observed in both Charcot-Marie-Tooth disease (CMT) and Chronic Inflammatory Demyelinating Polyneuropathy (CIDP).
conclusionAccurate distinction between CMT4C and CIDP is critical to avoid ineffective treatments. Genetic testing should be considered in refractory or atypical cases of presumed immune-mediated neuropathy. This study highlights that the initial misdiagnosis was driven by electrodiagnostic findings rather than the clinical picture, and identifies specific clues (early onset, parental consanguinity, scoliosis, and poor response to immunotherapy) that should prompt clinicians to pursue genetic testing before attributing NCS findings to an acquired inflammatory process.
Indexed as
Identifiers
42377577What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.