Charcot Marie Tooth Disease - Autosomal Recessive Forms: Clinical, Electrophysiology and Genetic Study in a Tunisian Cohort (P05.149)

Abstract

Objective: To investigate recessive forms in a Tunisian population with a high consanguinity rate. Background Charcot Marie Tooth disease (CMT) is the most frequent hereditary peripheral neuropathy. Autosomal Recessive forms of CMT are known to be the least common forms worldwise. Design/Methods: Among the prospective cohort on CMT of the Razi hospital - Tunisia, we included patients with recessive inheritance. All patients had clinical examination and were assessed by the Overall Neuropathy Limitations Scale (ONLS) and CMT neuropathy scale (CMTNS). ENMG study and genetic testing were also performed in all cases. Results: 33/70 patients belonging to 16 families were included, with a sex ratio of 0,6. Consanguinity was found in 94% of cases. Mean age of patient was 20,8 years. Mean age of onset was 3,7 years. Walking symptoms were observed in 56,7%. Amyotrophy was detected in 81,8 %. Weakness was found in 69,7% in upper limbs and in 87,9% in lower limbs. ONLS score was at 4,7 and CMT score at 12,2%. Axonal neuropathy was found in 48,5% and demyelinating (CMT4) in 51,5%. Axonal polyneuropathy was more frequently associated to early onset in 90.9% (p Conclusions: We presented a large serie of recessive forms of CMT. In fact, they represented 47% of all cases because of the high rate of consanguinity in our region. Comparatively with dominant forms, AR ones were caracterised by an earlier onset, more severe clinical features with important amyotrophy and handicap. Disclosure: Dr. Kacem has nothing to disclose. Dr. Gargouri has nothing to disclose. Dr. Ben Djebara has nothing to disclose. Dr. Hizem has nothing to disclose. Dr. Gouider has nothing to disclose. Dr. Leguern has nothing to disclose.