福山型先天性筋ジストロフィー
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- 1. 眼咽頭型、遠位型,および先天性筋ジストロフィーoculopharyngeal distal and congenital muscular dystrophies [show details]
…distinguished "occidental" or "classic" CMD from "syndromic" forms of CMD such as Fukuyama muscular dystrophy, Walker-Warburg syndrome, or muscle-eye-brain disease. However, the distinction is not entirely …
- 2. 肢帯型筋ジストロフィーlimb girdle muscular dystrophy [show details]
…secondary dystroglycanopathy are also associated with congenital muscular dystrophies, including Walker-Warburg syndrome, Fukuyama type of congenital muscular dystrophy, and muscle-eye-brain disease. Laminopathies …
- 3. 患者教育:筋ジストロフィーの概要(詳細)overview of muscular dystrophies beyond the basics [show details]
… in some patients. Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that are apparent at birth. There are several types, including a classic form, Fukuyama type (seen primarily …
- 4. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要overview of peripheral nerve and muscle disorders causing hypotonia in the newborn [show details]
…associated with brain malformations include Fukuyama type, Walker-Warburg syndrome, and muscle-eye-brain disease. Walker-Warburg syndrome and muscle-eye-brain disease may be due to congenital defects in post-translational …
- 5. デュシェンヌ型およびベッカー型筋ジストロフィー:臨床的特徴および診断duchenne and becker muscular dystrophy clinical features and diagnosis [show details]
…and Becker muscular dystrophies are reviewed here. Other aspects are discussed separately. Other muscular dystrophies are reviewed elsewhere. The Duchenne and Becker muscular dystrophies (as well as …
English Journal
- Renal dysfunction is rare in Fukuyama congenital muscular dystrophy.
- Ishigaki K, Kato I, Murakami T, Sato T, Shichiji M, Ishiguro K, Ishizuka K, Funatsuka M, Saito K, Osawa M, Nagata S.
- Brain & development. 2019 Jan;41(1)43-49.
- The leading cause of death in patients with Fukuyama congenital muscular dystrophy (FCMD) is congestive heart failure or respiratory dysfunction, which is same as that in Duchenne muscular dystrophy (DMD). Recent studies reported that renal dysfunction is a common complication and an increasing caus
- PMID 30077507
- [Electroencephalogram of two patients with Fukuyama congential muscular dystrophy].
- Yang HP, Wang S, Yang ZX.
- Zhonghua er ke za zhi = Chinese journal of pediatrics. 2018 Nov;56(11)871-872.
- PMID 30392214
- Suthar R, Angurana SK, Singh U, Singh P.
- Neurology India. ;66(6)1849-1850.
- PMID 30504606
Japanese Journal
- Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage
- The Relationship between Preoperative Echocardiographic Evaluation and Spinal Deformity in Patients with Neuromuscular Scoliosis
- 臨床研究・症例報告 ウイルス感染を契機に筋力低下の増悪と急性呼吸不全を来し,筋力回復までに長期間を要した福山型先天性筋ジストロフィーの1例 (先天異常)
Related Links
- Fukuyama congenital muscular dystrophy is caused by mutations in the FKTN gene. This gene provides instructions for making a protein called fukutin. Although the exact function of fukutin is unclear, researchers predict that it may ...
- Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone (previously ...
- Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit,
Related Pictures
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- (医)栄養失調、栄養失調症。(医)異栄養、異栄養症、ジフトロフィー
- 栄養障害。細胞や組織の物質代謝障害によって変性・萎縮などの起こること。
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- 関
- muscle、muscularis、musculus、myo
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筋ジストロフィー MD