Open AccessCASE REPORT OF ADULT-ONSET CHARCOT MARIE TOOTH TYPE X
Author(s) -
Richard Suherlim,
Anak Agung Ayu Putri Laksmidewi,
Sudiarini NKA
Publication year - 2022
Publication title -
mnj (malang neurology journal)
Language(s) - English
Resource type - Journals
eISSN - 2442-5001
pISSN - 2407-6724
DOI - 10.21776/ub.mnj.2022.008.01.14
Subject(s) - medicine , weakness , electromyoneurography , nerve biopsy , polyneuropathy , physical examination , biopsy , neurological examination , muscle biopsy , magnetic resonance neurography , tooth disease , neurology , peripheral neuropathy , magnetic resonance imaging , pathology , surgery , radiology , disease , endocrinology , psychiatry , diabetes mellitus
Charcot-Marie-Tooth (CMT) or Hereditary Motor and Sensory Neuropathy (HMSN) is the most common hereditary peripheral nerve disease with progressive chronic weakness, muscle atrophy, and sensory disturbances. There are several types and subtypes of CMT with their respective clinical manifestations. In this article, we reported a patient with of CMT type X. A 43-year-old male patient was referred to a neurology clinic with weakness in both limbs for 2 years, accompanied by tingling and sensory disturbance in both hands and feet. There are several of his family members who had similar complaints. Lumbosacral magnetic resonance imaging (MRI) examination revealed mild nucleus pulposus herniation. Electroneuromyography (ENMG) examination revealed demyelinating sensory motor polyneuropathy. Histopathological examination of nerve biopsy showed demyelination of the sural nerve. It is hard to make a diagnosis of CMT, because it requires high suspicion from clinicians once encounter a suspected case and also need to supported by sophisticated equipment such as electrophysiological examinations, nerve biopsy examinations, and genetic examinations. It is vital for clinicians for being able to diagnose CMT correctly and provide treatment as soon as possible in order to maintain the patients’ quality of life.