Medula
Vol 13 No 1 (2023): Medula

Sindrom MELAS: Kelainan Genetik Mitokondria

Muhamad Fathurrahman Zain (Lampung University)
Kevin Jeremia Purba (Mahasiswa Kedokteran, Universitas Lampung)
Delisa Mutiara Nabila (Mahasiswa Kedokteran, Universitas Lampung)
Takhfa Nur Asyifa (Mahasiswa Kedokteran, Universitas Lampung)
Rani Himayani (Bagian Ilmu Penyakit mata, Fakultas Kedokteran, Universitas Lampung)



Article Info

Publish Date
29 Jan 2023

Abstract

MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) is an inherited mitochondrial genetic disorder. Paternal mitochondria are present only in the sperm tailpiece due to a mutation in the tRNA in the mitochondrial gene MTTL1. MELAS is the most common mitochondrial disease with an incidence prevalence of 1 in 4000. MELAS syndrome is a multi-organ disease with a wide variety of manifestations including stroke-like episodes, dementia, epilepsy, lactic acidosis, myopathy, recurrent headaches, hearing loss, diabetes, and short stature. Individuals with the MELAS syndrome often present with more than one initial clinical manifestation. The diagnosis can be made with Hirano’s criteria for MELAS. The diagnostic criteria for MELAS must include the following events: (1) signs of encephalopathy, often with dementia and seizures, (2) episodes similiar to stroke (stroke-like episodes) in young age, and (3) biochemical evidence of mitochondrial dysfunction such as lactic acidosis or RRF in muscle biopsy. There is no specific treatment for MELAS syndrome, but most of the treatment for MELAS is symptomatic and involves multidiscipline such as neurologists, cardiologists, endocrinologists, audiologists, ophthalmologists, physical and occupational therapy and psychology, considering that MELAS syndrome can cause dysfunction of several organ.

Copyrights © 2023






Journal Info

Abbrev

medula

Publisher

Subject

Education Medicine & Pharmacology Neuroscience Public Health

Description

Medical Profession Journal of Lampung didirkan pada tahun 2013. Medula hadir memenuhi kebutuhan publikasi jurnal bagi mahasiswa Fakultas Kedokteran, Dosen ataupun klinisi dan profesi lain dibidang kedokteran. Medula diterbitkan dengan frekuensi 4 kali dalam setahun yang tiap nomornya mencakup 30 ...