A multidisciplinary approach to monitor pregnancy in Charcot-Marie-Tooth disease

Laura, M, Ramdharry, G, Skorupinska, M, Bull, K and Reilly, MM (2016) A multidisciplinary approach to monitor pregnancy in Charcot-Marie-Tooth disease. In: 6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting; 08 - 10 Sep 2016, Venice-Mestre, Italy.


Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy and a significant group of patients are women of child bearing age. There are multiple factors for this group of patients considering a pregnancy but a paucity of published evidence to guide decision making. This lack of knowledge represents a challenge for both clinician and patient. Current knowledge is based predominantly on case reports or retrospective series and guidelines for managing pregnancy in CMT are lacking. A multidisciplinary clinic has been set up in order to prospectively assess the impact of pregnancy on CMT and to assess how CMT affects pregnancy, delivery and the care of the newborn baby. Pregnant patients are assessed in clinic during and after pregnancy. Liaison with midwife and obstetrician is also provided. Clinical history, neurological examination and Charcot-Marie-Tooth Examination Score (CMTES) are recorded. Phone clinics to evaluate the progress of the pregnancy are also arranged. So far nine patients have been systematically followed up in the last three years. The majority of patients had genetically confirmed CMT (four CMT1A, two CMT2A, one CMTX and one CMT4D). Age of the patients ranged from 23 to 38. CMTES during pregnancy was on average 10.1 (±6.9; range 2–22). One-third of patients reported worsening of symptoms during pregnancy but changes on neurological examination and CMTES were not significant compared to prior to pregnancy. Two patients required emergency caesarian because of pregnancy complications whereas one had elective caesarian. One patient had assisted delivery because of severity of disease. Two patients had natural delivery and the remainder will be assessed after delivery. The data acquired from this study will provide valuable observational information on the impact of pregnancy on CMT and will inform future standard of care.

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