Sonographic Muscle Thickness Assessment Correlates With Disease Burden and Progression in Charcot-Marie-Tooth 1A Disease.

Purpose: Charcot-Marie-Tooth disease (CMT), the most common form of hereditary neuropathy causes varying disability. Valid and accessible tools are needed for clinical and research evaluation. Previous studies have shown sonographic muscle thickness correlates with clinical and electrophysiological findings in many neuromuscular disorders. This study examines the correlation between muscle thickness in CMT1A patients with disease progression and clinical parameters, including the CMT neuropathy scale.

Methods: Prospective study evaluating CMT1A patients between January and December 2023 at the neuromuscular unit in Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. Patients underwent comprehensive clinical evaluation including the CMT neuropathy scale, and quantitative sonographic evaluation of muscle thickness in eight limb muscles.

Results: Eight CMT1A patients were examined, five on two occasions. Sum muscle thickness measured by ultrasound strongly correlated with most clinical parameters, including the CMT neuropathy scale. However, disease progression showed strong correlation with CMT neuropathy scale only.

Conclusions: In CMT1A patients, standardized quantitative sonographic muscle thickness assessment is a valid and promising tool for evaluating disease burden and, to a lesser extent, progression, showing strong correlations with key clinical parameters. Consistent with prior studies of other neuromuscular disorders.