Abstract
BACKGROUND AND AIMS: Restless legs syndrome (RLS) is frequently reported in peripheral neuropathies, but its prevalence and clinical correlates in Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) remain poorly defined. We aimed to determine RLS prevalence in CMT1A and HNPP and to assess associations with disease severity, muscle strength, disability, and quality of life (QoL). METHODS: Forty-seven CMT1A and 18 HNPP patients were included. RLS was diagnosed according to the International Restless Legs Syndrome Study Group criteria, and RLS severity was assessed with the International Restless Legs Syndrome Severity Scale (IRLS-SS). MRC Sum Score (MRC-SS), Charcot-Marie-Tooth Examination Score (CMTES), Overall Neuropathy Limitations Scale (ONLS), Beck Depression Inventory (BDI), Fatigue Severity Scale (FSS), and the 36-Item Short Form Health Survey (SF-36) were recorded. RESULTS: RLS was present in 29.8% of CMT1A and 38.9% of HNPP patients. CMT1A patients with RLS had longer disease duration (p = 0.05), worse muscle strength (p = 0.014), higher disease severity (p = 0.014), higher upper-limb (p = 0.005) and overall disability (p = 0.011), and higher fatigue severity (p = 0.011) compared with those without RLS. HNPP patients with RLS showed higher upper-limb (p = 0.034) and overall disability (p = 0.032), higher depression (p = 0.005), and fatigue severity (p = 0.018) than those without RLS. QoL was significantly impaired in patients with RLS in both groups, and RLS severity negatively correlated with physical and mental QoL domains. INTERPRETATION: RLS is common in CMT1A and HNPP and is associated with increased disease severity, greater functional disability, and reduced QoL. Clinicians should screen for RLS in PMP22-related neuropathies and consider symptomatic management.