Action myoclonus-renal failure syndrome: A case report with bioinformatic annotations
Yükleniyor...
Dosyalar
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springernature
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Action myoclonus-renal failure (AMRF) syndrome is a rare autosomal recessive disorder characterized by myoclonic epilepsy with occasional renal failure comorbidity. This study examines a consanguineous family with multiple members presenting myoclonic epilepsy. The disease's continued transmission within the family is attributable to a lack of genetic testing and the inability to establish a definitive diagnosis. Our objective is to guide physicians toward accurate diagnoses and reduce the disease's recurrence through appropriate genetic counseling. Various diagnostic approaches can contribute to identifying AMRF. While magnetic resonance imaging (MRI) results and blood panels may not yield definitive diagnoses, electromyography (EMG) studies can serve as a robust diagnostic tool, leading to genetic confirmation. In line with standardized protocols, EMG findings consistent with AMRF present a polyneuropathy characterized by axonal degeneration and demyelinating features. These features manifest as decreased amplitude for axonal degeneration and decreased nerve conduction velocity (NCV) for demyelination. The presence of such EMG findings in a patient exhibiting both renal and central nervous system involvement may reinforce a preliminary diagnosis and warrant further genetic analysis.
Açıklama
Anahtar Kelimeler
Scarb2 Protein, Bioinformatics, Frameshift Mutation, Gene, Epilepsy, Deficiency
Kaynak
Cureus Journal of Medical Science
WoS Q Değeri
Q3
Scopus Q Değeri
Cilt
15
Sayı
7
Künye
Ekmekci, H., Qutob, O., Babayev, H., & Şahin, A. (2023). Action Myoclonus-Renal Failure Syndrome: A Case Report with Bioinformatic Annotations. Cureus, 15(7).
