SavedAdd your journal

Journals / Epilepsi / 2017 / Cilt: 23 - Sayı: 1

Spinal Muscular Atrophy With Myoclonic Epilepsy

Spinal Musküler Atrofi ile Miyoklonik Epilepsi Birlikteliği

Faik BUDAK
Buket ÖZKARA
Journal
Epilepsi
Pages
29–30
Publication Date
2022-10-17
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The association between SMA and PME has not yet been fully understood.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord.
📊
Key Findings & Data:Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
💡
Conclusion & Impact:The association between SMA and PME has not yet been fully understood.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration. The association between SMA and PME has not yet been fully understood.

Özet

Spinal musküler atrofi (SMA) spinal kord ön boynuz hücrelerinde dejenerasyon ile seyreden bir grup hastalıktır. Progresif miyoklonik epilepsi (PME) ise miyoklonik ve jeneralize nöbetler ve progresif nörolojik yıkım ile seyreden bir durumdur. Spinal musküler atrofi ile PME birlikteliği oldukça nadir görüldüğünden olgumuzu paylaşmak istedik.

🔖

Cite This Article

BUDAK, F., ÖZKARA, B. (2022). Spinal Muscular Atrophy With Myoclonic Epilepsy. Epilepsi, Cilt: 23 - Sayı: 1, 29–30. https://ajindex.com/articles/501665

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (5)

  1. Striano P, Boccella P, Sarappa C, Striano S. Spinal muscular atrophy and progressive myoclonic epilepsy: one case re-port and characteristics of the epileptic syndrome. Seizure 2004;13(8):582–6
  2. Liyanage DS, Pathberiya LS, Gooneratne IK, Vithanage KK, Gamage R. Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family. Int Arch Med 2014;7(1):42
  3. Haliloglu G, Chattopadhyay A, Skorodis L, Manzur A, Mercuri E, Talim B, et al. Spinal muscular atrophy with progressive myo-clonic epilepsy: report of new cases and review of the litera-ture. Neuropediatrics 2002;33(6):314–9
  4. Gan JJ, Garcia V, Tian J, Tagliati M, Parisi JE, Chung JM, et al. Acid ceramidase deficiency associated with spinal muscular atro-phy with progressive myoclonic epilepsy. Neuromuscul Disord 2015;25(12):959–63
  5. Rubboli G, Veggiotti P, Pini A, Berardinelli A, Cantalupo G, Ber-tini E, et al. Spinal muscular atrophy associated with progres-sive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. Epilepsia 2015;56(5):692–8.