Neurona
Vol 38 No 1 (2020)

PENDEKATAN DIAGNOSIS DAN TATA LAKSANA MULTIDISIPLIN JANGKA PANJANG PADA NEUROPATI HEREDITER: CHARCOT MARIE TOOTH

Putri Widya Andini (Departemen Neurologi FK Universitas Indonesia/RSUPN Dr. Cipto Mangunkusumo, Jakarta)
Manfaluthy Hakim (Departemen Neurologi FK Universitas Indonesia/RSUPN Dr. Cipto Mangunkusumo, Jakarta)
Fitri Octaviana (Departemen Neurologi FK Universitas Indonesia/RSUPN Dr. Cipto Mangunkusumo, Jakarta)
Luh Ari Indrawati (Departemen Neurologi FK Universitas Indonesia/RSUPN Dr. Cipto Mangunkusumo, Jakarta)
Winnugroho Wiratman (Departemen Neurologi FK Universitas Indonesia/RSUPN Dr. Cipto Mangunkusumo, Jakarta)
Triana Ayuningtyas (Departemen Neurologi FK Universitas Indonesia/RSUPN Dr. Cipto Mangunkusumo, Jakarta)
Ahmad Yanuar Safri (Departemen Neurologi FK Universitas Indonesia/RSUPN Dr. Cipto Mangunkusumo, Jakarta)

Article Info

Publish Date
01 Dec 2020

Abstract

Hereditary neuropathy is the most common inherited neuromuscular diseases, with Charcot Marie Tooth being the most common form. It is characterised by degeneration of peripheral sensory and motor nerves due to axonal degeneration or demyelination. The diagnosis of hereditary neuropathy requires comprehensive history taking including family history to determine the mode of inheritance, clinical and neurophysiological examination, and genetic testing. This review provides a diagnostic approach and long-term multidisciplinary management in patients with suspected hereditary neuropathy. Keywords: Charcot Marie Tooth, genetics, neuropathy

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Journal Info
Neurona
Website

Abbrev

neurona

Publisher

Perhimpunan Dokter Spesialis Neurologi Indonesia

Subject

Health Professions Medicine & Pharmacology Neuroscience

Description

Neurona merupakan satu-satunya jurnal yang memuat perkembangan penelitian dan kasus terbaru bidang neurosains oleh Perhimpunan Dokter Spesialis Saraf (PERDOSSI) Pusat di Indonesia. Jurnal ini diterbitkan bulan Maret, Juni, September dan Desember. Bidang studi cakupan NEURONA meliputi: Stroke dan ...