Postural instability in Charcot-Marie-Tooth 1A disease

Area of Science:

• Neurology
• Biomechanics
• Gait Analysis

Background:

• Charcot-Marie-Tooth type 1A (CMT1A) is a progressive peripheral neuropathy.
• Balance impairment is a common challenge for CMT1A patients.
• The specific contributions of sensory deficits, muscle weakness, and foot deformities to balance issues in CMT1A are not fully elucidated.

Purpose of the Study:

• To investigate the impact of somatosensory impairment, distal muscle weakness, and foot deformities on postural balance in CMT1A patients.
• To correlate balance parameters with clinical and static foot measurements in CMT1A.

Main Methods:

• Utilized a baropodometric platform for stabilometric and static analyses in 21 CMT1A patients and a control group.
• Assessed postural imbalance via center of pressure (CoP) sway area and velocity (eyes open/closed).
• Evaluated foot deformities using static load and plantar surface measurements; correlated findings with muscle strength and CMT examination scores (CMTES).

Main Results:

• CMT1A patients exhibited greater postural instability (higher CoP velocity) compared to controls.
• Patients showed altered foot loading patterns (reduced midfoot load, increased forefoot load).
• Postural instability correlated inversely with ankle dorsi-flexion strength and directly with CMTES motor symptom scores, but not with sensory impairment or foot deformities.

Conclusions:

• Upright standing balance is significantly altered in CMT1A patients.
• Ankle dorsi-flexor muscle weakness appears to be the primary driver of imbalance in this CMT1A cohort.
• Findings suggest that early-stage or mildly affected CMT1A populations may present with weakness-driven balance deficits rather than sensory or structural foot issues.