Abstract
Objective: To assess the prevalence of autonomic neuropathy in patients with CMT and its impact on patient-reported disability.
Background: Charcot Marie Tooth disease (CMT) is a genetic neuropathy characterized by progressive foot drop, imbalance, sensory loss, gait abnormalities and reduced quality of life. Patients with peripheral neuropathy may also exhibit autonomic neuropathy, which can impact heart rhythms, small fiber nerves, and breathing. The prevalence of autonomic neuropathy in CMT is unknown.
Design/Methods: Prospective survey study of CMT patients aged 18 and older, recruited online from patient advocacy groups (Charcot-Marie-Tooth Association, Hereditary Neuropathy Foundation, and Rare Disease Clinical Research Network). Scores on the Survey of Autonomic Symptoms (SAS; range: 0–12) were used to determine the primary outcome of prevalence of autonomic neuropathy (> 4 for ages < 60 years, and > 3 for ages >60). Scores on the World Health Organization Disability Assessment Schedule (WHODAS 2; range: 1–5; higher scores indicate worse function) were compared to determine impact of autonomic neuropathy on CMT.
Results: Of 705 surveys received, 669 responders with complete data were analyzed. Responders with genetic testing: n=433, 64.7%. Most common CMT type: 1A (n=228, 52.7%); most common age range: 60+ (n=286, 42.8%); most common gender = F; (n=431, 64.4%). Prevalence of autonomic neuropathy as identified by SAS scores in adults with CMT =65.8% (n=441). CMT patients with autonomic neuropathy reported significantly more CPAP/BiPAP use (t=2.95, p=0.003), cardiac pacemaker/defibrillator use (t=2.47, p=0.01), and burning dysesthesias (t=7.71, p<0.0001). The impact of autonomic neuropathy on CMT was also significant as shown by higher average WHODAS scores in CMT patients with AN (t =10.733, p < 0.0001).
Conclusions: There is a high prevalence and impact of autonomic neuropathy in patients with CMT. We recommend prospective validation of our results in a CMT population, as this would change disease surveillance and the clinical care of patients with CMT.
Disclosure: Dr. Ramchandren has nothing to disclose. Dr. Tirella has nothing to disclose.
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