PENYAKIT CHARCOT MARIE TOOTH ONSET LANJUT - Kenny Merryn; Jimmi Sabirin; Octaviani Octaviani (NEURONA, 2020)
LATE ONSET CHARCOT MARIE TOOTH DISEASEABSTRACTCharcot Marie Tooth’s disease (CMT) is a hereditary sensoric motoric polineuropathy. Late onset CMT are rare reported in Indonesia. A woman 48 years old has numbness in her both arm and leg gradually since 5 years ago, followed by deformities and weakness. Her cousin has the same disease. In physical examination, there were flaccid type tetraparesis, socks and gloves hypesthesia, steppage gait, pes cavus, hammer toes, thenar, hypothenar, and extensor hallucis longus muscle atrophy bilaterally. Electrophysiology studies showed mixed sensoric and motoric polineuropathy with symetrically demyelinating and uniform slowing. Management were ascorbic acid, neurotrophic, physiotherapy, and occupational therapy.Keywords: Charcot Marie Tooth, hammer toes, pes cavus, steppage gaitABSTRAKPenyakitCharcot Marie Tooth (CMT) merupakan polineuropati motorik dan sensorik herediter. Kasus CMT onset lanjut di Indonesia masih sangat jarang dilaporkan. Seorang wanita 48 tahun mengalami kesemutan pada kedua lengan dan tungkai sejak 5 tahun secara perlahan diikuti perubahan bentuk tangan dan kaki serta kelemahan. Riwayat sepupu mengalami keluhan serupa. Pemeriksaan fisik didapatkan kelemahan kedua lengan dan tungkai tipe flaksid, hipestesi pola sarung tangan dan kaos kaki, steppage gait, pes cavus, hammer toes, atrofi otot tenar, hipotenar, dan ekstensor halusis longus bilateral. Pemeriksaan elektrofisiologi didapatkan polineuropati motorik sensorik dengan demielinisasi simetris dan perlambatan kecepatan konduksi seragam. Tata laksana pasien ini menggunakan asam askorbat, neurotropik, fisioterapi, dan terapi okupasi.Kata kunci: Charcot Marie Tooth, hammer toes, pes cavus, steppage gait