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All Journal Media Dermato-Venereologica Indonesiana Neurona Acta Neurologica Indonesia
Indrawati, Luh Ari
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Health Professions Medicine & Pharmacology Neuroscience Public Health

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Journal : Neurona

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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
Publisher : PERDOSNI

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Abstract

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
Publisher : PERDOSNI

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 Endi Novianto Fadli, Nurul Fitri Octaviana Fitri, Eyleny Meisyah Hadiweijaya, Antonia Hakim, Manfaluthy Halim, P. Anthony Hamdali, Christie Harsono, Adrian Ridski Mustika, Alyssa Putri Parindra, Cakra Pranathania, Andravina Safri, Ahmad Yanuar Sari, Waode Satriana Savitri, Irma Wiguna, Fikry Ichsan Windy Keumala Budianti Wiratman, Winnugroho