ear;
nose and throat;
otolaryngology;
genetics;
FOLD IMMOBILITY;
D O I:
10.1136/bcr-2020-239354
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
A 72-year-old man initially presented to the ENT outpatient department after 20 years with increasing intermittent episodes of dyspnoea and stridor. Flexible nasendoscopy revealed bilateral vocal cord paralysis with the cords in a medial position. He subsequently underwent urgent tracheostomy. He has six similarly affected family members across three generations all requiring tracheostomy to maintain an adequate airway. Follow-up and genetic testing have revealed mutation of the dynactin 1 gene leading to distal hereditary motor neuropathy type 7b. This is a rare occurrence causing this condition to be reported in only three families previously throughout the world.
机构:
Univ Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, ItalyUniv Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, Italy
Bigliardi, Guido
Malaguti, Maria Chiara
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Univ Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, ItalyUniv Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, Italy
Malaguti, Maria Chiara
Sola, Patrizia
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Univ Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, ItalyUniv Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, Italy
Sola, Patrizia
Georgoulopoulou, Eleni
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Univ Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, ItalyUniv Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, Italy
Georgoulopoulou, Eleni
Tondelli, Manuela
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Univ Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, ItalyUniv Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, Italy
Tondelli, Manuela
Barbi, Filippo
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Univ Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, ItalyUniv Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, Italy
Barbi, Filippo
Canali, Elena
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Univ Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, ItalyUniv Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, Italy
Canali, Elena
Mandrioli, Jessica
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Univ Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, ItalyUniv Modena & Reggio Emilia, Dipartimento Neurosci, Neurol Unit, Nuovo Osped Civile S Agostino Estense, I-41100 Modena, Italy
机构:
Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Nakamura, Haruko
Komiya, Hiroyasu
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Komiya, Hiroyasu
Uematsu, Eri
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Uematsu, Eri
Nakae, Yoshiharu
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Nakae, Yoshiharu
Tanaka, Kenichi
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Tanaka, Kenichi
Kunii, Misako
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Kunii, Misako
Tada, Mikiko
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Tada, Mikiko
Joki, Hideto
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Joki, Hideto
Koyano, Shigeru
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Koyano, Shigeru
Matsumoto, Naomichi
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机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Matsumoto, Naomichi
Doi, Hiroshi
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Doi, Hiroshi
Takeuchi, Hideyuki
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Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan
Takeuchi, Hideyuki
Tanaka, Fumiaki
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h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, JapanYokohama City Univ, Grad Sch Med, Dept Neurol & Stroke Med, Kanazawa Ku, Fukuura, Japan