ID | 61040 |
フルテキストURL | |
著者 |
Morimoto, Nobutoshi
Department of Neurology, Kagawa Central Prefectural Hospital
Morimoto, Mizuki
Department of Neurology, Kagawa Central Prefectural Hospital
Takahashi, Yoshiaki
Department of Neurology, Kagawa Central Prefectural Hospital
Takamiya, Motonori
Department of Neurology, Kagawa Central Prefectural Hospital
Nishino, Ichizo
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)
Abe, Koji
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
publons
researchmap
|
抄録 | [Background] Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disease characterized by asymmetric involvement of muscles in the face, upper extremity, trunk, and lower extremity regions, with variable severity. It was recently reported that restrictive respiratory involvement is more frequent and severe than previously recognized, while cardiac dysfunction other than arrhythmia is still considered extremely rare in FSHD. [Case report] A 59-year-old man presenting with marked muscle atrophy in the trunk and asymmetrical muscle atrophy in the legs was hospitalized because of dyspnea and edema in the face and limbs. Shortness of breath with body movement started from approximately 40 years of age. Muscle biopsy revealed myopathic change with mild to moderate variation in fiber size. The diagnosis of FSHD was made by D4Z4 contraction to three repeats on genetic testing. A pulmonary function test revealed a decline of forced vital capacity (FVC) and a preserved FEV1/FVC indicating restrictive ventilatory defect (RVD). Ultrasonic echocardiogram (UCG) showed diffuse left ventricular hypokinesis, ventricular septum thickening, pericardial effusion, and decreased ejection fraction (LVEF 30%). [Conclusion] Although restrictive ventilatory defect and congestive heart failure are uncommon in FSHD, respiratory and cardiac evaluation may be necessary in patients with FSHD.
|
キーワード | Facioscapulohumeral muscular dystrophy (FSHD)
Restrictive ventilatory defect (RVD)
Congestive heart failure (CHF)
|
発行日 | 2020-12
|
出版物タイトル |
eNeurologicalSci
|
巻 | 21巻
|
出版者 | Elsevier
|
開始ページ | 100284
|
ISSN | 2405-6502
|
資料タイプ |
学術雑誌論文
|
言語 |
英語
|
OAI-PMH Set |
岡山大学
|
著作権者 | © 2020 The Authors.
|
論文のバージョン | publisher
|
PubMed ID | |
DOI | |
関連URL | isVersionOf https://doi.org/10.1016/j.ensci.2020.100284
|
ライセンス | http://creativecommons.org/licenses/by-nc-nd/4.0/
|