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Journals / Türk Nöroloji Dergisi / 2010 / Cilt: 16 - Sayı: 4

Hereditary Neuropathy with Liability to Pressure Palsy: The Clinical and Electrophysiological Features of Four Families

Herediter Basınca Duyarlı Nöropati: Dört Ailenin Klinik ve Elektrofizyolojik Özellikleri

Handan AKAR
Esra BATTALOĞLU
Musa Kazım ONAR
Ayşe Oytun BAYRAK
İbrahim BARIŞ
Pages
193–198
Publication Date
2022-11-05
DOI
—
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AI Summary & Key Takeaways

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

Four patients and three members of the family underwent genetic testing and HBDN deletion was shown in all

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by acute, painless andrecurrent mononeuropathies that are secondary to minor trauma or compression.
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Key Findings & Data:Diagnosis is often overlooked when detailed examinations are not performed.
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Conclusion & Impact:Four patients and three members of the family underwent genetic testing and HBDN deletion was shown in all
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by acute, painless andrecurrent mononeuropathies that are secondary to minor trauma or compression. Diagnosis is often overlooked when detailed examinations are not performed. We discuss the features of our four HNPP patients and their close relatives in order to emphasize theimportance of clinical and electrophysiological findings in the diagnosis of HNPP. Four patients and three members of the family underwent genetic testing and HBDN deletion was shown in all

Özet

Herediter basınca duyarlı nöropati (HBDN) minör bir travma veya bası sonrası ortaya çıkan akut, ağrısız ve tekrarlayıcı mononöropati atakları ile karakterize otozomal dominant (baskın) geçişli ailevi bir hastalıktır. HBDN tanısı ayrıntılı incelemenin yapılmadığı durumlar- da kolaylıkla atlanabilmekte ve bu yüzden hastalar gereksiz medikal ve cerrahi girişimlere maruz kalabilmektedir. Biz anamnez, nöro- lojik muayene ve elektrofizyolojik bulguların tanıdaki önemini vurgulamak amacıyla HBDN tanılı dört hastamız ve yakınlarının özellik- lerini literatür eşliğinde tartıştık. Yedi olguda genetik inceleme yapıldı ve tümünde HBDN delesyonu gösterildi

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Cite This Article

AKAR, H., BATTALOĞLU, E., ONAR, M. K., BAYRAK, A. O., BARIŞ, İ. (2022). Hereditary Neuropathy with Liability to Pressure Palsy: The Clinical and Electrophysiological Features of Four Families. Türk Nöroloji Dergisi, Cilt: 16 - Sayı: 4, 193–198. https://ajindex.com/articles/637002

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