抄録
Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. In total, 207 patients with FCMD (104 boys and 103 girls) were registered by the end of September 2013. Mean patient age at first registration was 8.1 ± 7.8 years (median, 6 years; range, 0–42 years). A homozygous 3-kb founder insertion mutation in the FKTN gene was present in 80% of registrants, whereas 20% had a compound heterozygous mutation. Sixty-nine patients (33%) had febrile seizures and/or epilepsy. Myopia was the most frequently detected abnormality (8.7%), followed by strabismus (5.9%). Overall, 16% of patients required respiratory support and this percentage increased with age. Cardiac dysfunction was detected in 16%, and dysphagia was observed in 22% of patients with FCMD. The FCMD patient registry is useful for clarifying the natural history of FCMD and recruiting patients for clinical trials.
| 元の言語 | English |
|---|---|
| ページ（範囲） | 885-893 |
| ページ数 | 9 |
| ジャーナル | Neuromuscular Disorders |
| 巻 | 28 |
| 発行部数 | 10 |
| DOI | |
| 出版物ステータス | Published - 10-2018 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Neurology
- Clinical Neurology
- Genetics(clinical)
これを引用
}
National registry of patients with Fukuyama congenital muscular dystrophy in Japan. / Ishigaki, Keiko; Ihara, Chikoto; Nakamura, Harumasa; Mori-Yoshimura, Madoka; Maruo, Kazushi; Taniguchi-Ikeda, Mariko; Kimura, En; Murakami, Terumi; Sato, Takatoshi; Toda, Tatsushi; Kaiya, Hisanobu; Osawa, Makiko.
：: Neuromuscular Disorders, 巻 28, 番号 10, 10.2018, p. 885-893.研究成果: Article
TY - JOUR
T1 - National registry of patients with Fukuyama congenital muscular dystrophy in Japan
AU - Ishigaki, Keiko
AU - Ihara, Chikoto
AU - Nakamura, Harumasa
AU - Mori-Yoshimura, Madoka
AU - Maruo, Kazushi
AU - Taniguchi-Ikeda, Mariko
AU - Kimura, En
AU - Murakami, Terumi
AU - Sato, Takatoshi
AU - Toda, Tatsushi
AU - Kaiya, Hisanobu
AU - Osawa, Makiko
PY - 2018/10
Y1 - 2018/10
N2 - Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. In total, 207 patients with FCMD (104 boys and 103 girls) were registered by the end of September 2013. Mean patient age at first registration was 8.1 ± 7.8 years (median, 6 years; range, 0–42 years). A homozygous 3-kb founder insertion mutation in the FKTN gene was present in 80% of registrants, whereas 20% had a compound heterozygous mutation. Sixty-nine patients (33%) had febrile seizures and/or epilepsy. Myopia was the most frequently detected abnormality (8.7%), followed by strabismus (5.9%). Overall, 16% of patients required respiratory support and this percentage increased with age. Cardiac dysfunction was detected in 16%, and dysphagia was observed in 22% of patients with FCMD. The FCMD patient registry is useful for clarifying the natural history of FCMD and recruiting patients for clinical trials.
AB - Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. In total, 207 patients with FCMD (104 boys and 103 girls) were registered by the end of September 2013. Mean patient age at first registration was 8.1 ± 7.8 years (median, 6 years; range, 0–42 years). A homozygous 3-kb founder insertion mutation in the FKTN gene was present in 80% of registrants, whereas 20% had a compound heterozygous mutation. Sixty-nine patients (33%) had febrile seizures and/or epilepsy. Myopia was the most frequently detected abnormality (8.7%), followed by strabismus (5.9%). Overall, 16% of patients required respiratory support and this percentage increased with age. Cardiac dysfunction was detected in 16%, and dysphagia was observed in 22% of patients with FCMD. The FCMD patient registry is useful for clarifying the natural history of FCMD and recruiting patients for clinical trials.
UR - http://www.scopus.com/inward/record.url?scp=85053157098&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85053157098&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2018.08.001
DO - 10.1016/j.nmd.2018.08.001
M3 - Article
C2 - 30220444
AN - SCOPUS:85053157098
VL - 28
SP - 885
EP - 893
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 10
ER -