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All Journal Indonesian Journal of Rheumatology Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia eJournal Kedokteran Indonesia Neurona Acta Neurologica Indonesia
Safri, Ahmad Yanuar
Departemen Neurologi FK Universitas Indonesia / RSUPN Cipto Mangunkusumo, Jakarta
Biochemistry, Genetics & Molecular Biology Education Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Public Health

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Journal : Neurona

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UJI VALIDITAS DAN RELIABILITAS KUESIONER THE 15-ITEM MYASTHENIA GRAVIS QUALITY OF LIFE SCALE VERSI BAHASA INDONESIA (MG-QOL15 INA) Fitri Octaviana; Ahmad Yanuar Safri; Fikry Syahrial; Luh Ari Indrawati; Winnugroho Wiratman; Manfaluthy Hakim
NEURONA Vol 37 No 4 (2020)
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v37i4.176

Abstract

Introduction: Myasthenia gravis (MG) is a chronic autoimmune disease in the neuromuscular junction characterized with fluctuating weakness symptoms. Advance in the diagnosis and management of MG cases increases the patient’s life expectancy therefore the evaluation of therapeutic success is no longer based solely on coping with the symptoms, but also in evaluating the quality of life of patients. The 15-item Myasthenia Gravis Quality of Life scale (MG-QOL15) is a questionnaire utilized today to evaluate the quality of life of MG patients. Aims: To obtain a valid and reliable Indonesian version of MG-QOL15 instrument. Methods: Forty four MG patients at the Cipto Mangunkusumo Neurology outpatient clinic who met the inclusion criteria were included in this cross sectional study. Patients filled in the MG-QOL15 questionnaire twice at two days interval. The concept used for the validity test of MG-QOL15 INA is cross-cultural validation according to World Health Organization (WHO) method. Reliability test was assessed using Cronbach alpha value. Results: We performed WHO cross-cultural validation on MG-QOL15 INA and obtained Spearman correlation coefficient values ranging from 0.568-0.789 at the first examination and 0.574-0.763 at the retest. Cronbach’s alpha value at the first examination was 0.917 and 0.909 for the retest. Discussion: MG-QOL15 INA is valid and reliable to be used as an instrument in evaluating the quality of life of MG patients. Keywords: Myasthenia gravis, MG-QOL15, quality of life
PENDEKATAN DIAGNOSIS DAN TATA LAKSANA MULTIDISIPLIN JANGKA PANJANG PADA NEUROPATI HEREDITER: CHARCOT MARIE TOOTH Putri Widya Andini; Manfaluthy Hakim; Fitri Octaviana; Luh Ari Indrawati; Winnugroho Wiratman; Triana Ayuningtyas; Ahmad Yanuar Safri
NEURONA Vol 38 No 1 (2020)
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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
UJI DIAGNOSTIK ICE PACK TEST DAN REPETITIVE NERVE STIMULATION SERTA KOMBINASINYA PADA MIASTENIA GRAVIS Winnugroho Wiratman; Bazzar Ari Mighra; Fitri Octaviana; Astri Budikayanti; Luh Ari Indrawati; Triana Ayuningtyas; Ahmad Yanuar Safri; Manfaluthy Hakim
NEURONA Vol 38 No 3 (2021)
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Introduction: Diagnosis of myasthenia gravis (MG) is based on clinical symptoms, physical examination and supporting examination; so far, no examination has become the primary standard in the enforcement of MG. Supporting examinations that are fast, non-invasive and easy to do are ice pack test (IPT) and repetitive nerve stimulation (RNS). Aims: To find the sensitivity and specificity of the IPT, RNS examination, and the combination of both in enforcing the diagnosis of MG. Methods: This study was conducted with a cross-sectional design using primary data and medical records of suspicious MG patients with ptosis in Cipto Mangunkusumo General Hospital between July-November 2019. Results: Of the 38 subjects with ptosis, 35 subjects were confirmed MG with positive SF-EMG/AChR antibodies/response therapy. The ice pack test was positive in 29 subjects (76.3 %). The diagnostic test results of the ice pack test have sensitivity 80%, Specificity 66.67%, area under the curve (AUC) value of 73.3%, the RNS has a sensitivity of 60%, specificity 100%, AUC value 80%, while the combination test has sensitivity 94.28%, specificity 66.67% and AUC value 80.5%. Discussion: The combination of IPT and RNS has good diagnostic value so it can be used as a supporting examination to the diagnosis of MG. Keywords: diagnostic test; ice pack test; myasthenia gravis; ptosis; RNS
SINDROM PIRAMIDAL BILATERAL MENYERUPAI KLINIS SINDROM GUILLAIN-BARRE Putri Auliya; Ahmad Yanuar Safri; Taufik Mesiano; Winnugroho Wiratman; Fitri Octaviana; Manfaluthy Hakim
NEURONA Vol 38 No 4 (2021)
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A 35-year-old man came with weakness in all four limbs with ascending paralysis. The patient experienced a weakness in the right leg initially, followed by the left leg within three hours and involved both arms within one day. The patient was taken to the emergency room afterwards, and within four days, the patient developed tetraplegia, experienced weaknesses of the vocal cord and must be assisted by the ventilator. Lumbar puncture and plasmapheresis were performed, but no improvement was seen. Subsequently, the patient underwent magnetic resonance imaging (MRI) and obtained a picture of subacute infarction on bilateral medulla oblongata pyramidal seen in ????heart shape????. Patients were rehabilitated and given secondary stroke preventive therapy. Clinical findings in this patient were very similar to the clinical findings in Guillain-Barre Syndrome as this cause delayed diagnosis and therapy of the stroke. Both of these two syndromes can be life-threatening because respiratory failure can occur. Keywords: Bilateral pyramidal syndrome, GBS, Guillain-barre syndrome, stroke
FENOMENA OTOT POSITIF PADA KELAINAN NEUROMUSKULAR Angelita, Michelle Cancera; Indrawati, Luh Ari; Hakim, Manfaluthy; Octaviana, Fitri; Budikayanti, Astri; Safri, Ahmad Yanuar; Wiratman, Winnugroho; Fadli, Nurul; Harsono, Adrian Ridski
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 40 No 2 (2024): Vol 40 No 2 (2024): Volume 40, No 2 - Maret 2024
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Positive muscle phenomena arise due to various forms of spontaneous muscle hyperactivity originating from motor neurons or the muscle itself. The presence of this phenomenon can constringe the possible diagnosis to be more specific, so if presence it is necessary to be identified in patients with potential neuromuscular disease. However, the presence of positive muscle phenomena is often overlooked. This gap in our knowledge regarding definitions, clinical findings, electrodiagnostic findings, and pathophysiological mechanisms hampers effective diagnosis and treatment. In this article, we review the clinical characteristics approach to diagnosis of various positive muscle phenomena originating from the lower motor neuron (LMN) and muscle, including tetany, cramps, fasciculations, myokymia, neuromyotonia, rippling muscle, percussion induced rapid contractions (PIRCs), myoedema, and contractures. Keywords: fasciculation, muscle phenomena, hyperactivity, myotonia, rippling muscle
ATTRv MIMICKING CIDP: INSIGHTS FROM TWO GENETICALLY CONFIRMED PATIENTS IN A NATIONAL TOP REFERRAL HOSPITAL Indrawati, Luh Ari; Hadiweijaya, Antonia; Wiguna, Fikry Ichsan; Parindra, Cakra; Safri, Ahmad Yanuar; Wiratman, Winnugroho; Fadli, Nurul; Harsono, Adrian Ridski; Hakim, Manfaluthy; Octaviana, Fitri
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
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Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.803

Abstract

ATTRv is a treatable autosomal dominant hereditary devastating disease caused by pathogenic variants in TTR gene leading to amyloid deposition in peripheral nerves. TTR stabilizer or gene silencing drugs are able to reduce amyloid formation. It can mimic chronic inflammatory demyelinating polyneuropathy (CIDP) but does not respond to immunotherapy, highlighting the importance of accurate diagnosis. We present two Indonesian male patients initially misdiagnosed with CIDP. The first case developed progressive distal weakness, sensory loss, profound autonomic dysfunction including orthostatic hypotension, erectile dysfunction and significant weight loss. Nerve conduction studies revealed demyelinating sensory neuropathy with mixed motor involvement and autonomic testing showed absent SSR and abnormal HRV. The patient received supportive care, including fludrocortisone for orthostatic hypotension. The second case experienced distal sensory-motor neuropathy with additional features of erectile dysfunction, urinary and fecal incontinence and recurrent painless heel blisters. Nerve conduction studies showed axonal sensorimotor polyneuropathy, and autonomic testing along with SSEP confirmed widespread autonomic and sensory pathway involvement. Serum protein electrophoresis in both cases revealed elevated gamma globulin without monoclonal spikes. Whole exome sequencing in both cases revealed the same pathogenic TTR variant (c.148G>A, p.Val50Met), confirming the diagnosis of ATTRv. CIDP lacks specific biomarkers and can mimic various neuropathies. In this case, distal predominant weakness and profound autonomic dysfunction were red flags for alternative diagnosis, such as ATTRv. Progressive sensory-motor neuropathy, atypical CIDP with autonomic involvement and unexplained weight loss warrant suspicion of ATTRv. Differential diagnoses should include diabetic neuropathy, autoimmune nodopathy, MAG neuropathy and monoclonal gammopathy-associated neuropathies.
Co-Authors Angelita, Michelle Cancera Astri Budikayanti Bazzar Ari Mighra Fadli, Nurul Fikry Syahrial Fitri Octaviana Fitri Octaviana Fitri Octaviana Fitri Octaviana Fitri Octaviana Fitri Octaviana Hadiweijaya, Antonia Hakim, Manfaluthy Harsono, Adrian Ridski Indrawati, Luh Ari Joedo Prihartono Luh A. Indrawati Luh Ari Indrawati Luh Ari Indrawati Luh Ari Indrawati Marcel Prasetyo Mustika, Alyssa Putri Parindra, Cakra Putri Auliya Putri Widya Andini Ridho Adriansyah Rudy Hidayat Sari, Waode Satriana Savitri, Irma Setiawan, Stefanus Imanuel Sukamto Koesnoe Taufik Mesiano Triana Ayuningtyas Triana Ayuningtyas Widya Widya, Widya Wiguna, Fikry Ichsan Winnugroho Wiratman Winnugroho Wiratman Winnugroho Wiratman Winnugroho Wiratman Winnugroho Wiratman Winnugroho Wiratman, Manfaluthy Hakim, Tiara Aninditha, Aru W. Sudoyo, Joedo Prihartono Wiratman, Winnugroho Yoga Putra