Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment

Tai Heng Chen, Yu Hung Lai, Pei Lun Lee, Jong Hau Hsu, Kanako Goto, Yukiko K. Hayashi, Ichizo Nishino, Chin Wen Lin, Hsiang Hung Shih, Chao Ching Huang, Wen Chen Liang, Wen Fu Wang, Yuh Jyh Jong

研究成果: 雜誌貢獻文章

28 引文 斯高帕斯(Scopus)

摘要

Contrary to the classical form, infantile facioscapulohumeral muscular dystrophy (FSHD) usually denotes a severe phenotype and is frequently associated with extramuscular involvements. To elucidate the genotype-phenotype correlation in this severe subgroup, we identified a cohort of nine patients with infantile FSHD who also carried a very short (10-13. kb) EcoRI fragment. Their current age ranged from 8 to 33. years and age of onset ranged from 0.4 to 5. years. One patient even manifested his first FSHD-related symptoms at as early as 5. months of age, including inability to smile, poor response to call, and infantile spasms. To date, four patients were wheelchair-bound and six patients had asymmetric weakness. Sensorineural hearing loss and abnormal fundoscopic findings were observed in eight and all of patients respectively. Three with the smallest EcoRI fragments (10-11. kb, with normal length being 50-300. kb) had mental retardation. Two of these had epilepsy. Cardiac arrhythmias were found in five patients. Restrictive ventilatory defects were observed in seven patients, with one progressing to chronic respiratory failure. Two had swallowing difficulties; one of these required gastrostomy. We identified several rarely reported phenotypes in infantile FSHD, including cardiac arrhythmia, respiratory insufficiency, and swallowing difficulties. There seems to be a correlation between the severity of phenotype and the very short EcoRI fragment in the chromosome 4q35 region. We conclude that the high frequency of multi-organ involvements in this severe FSHD variant suggests the need for an early and multidisciplinary intervention.

原文英語
頁(從 - 到)298-305
頁數8
期刊Neuromuscular Disorders
23
發行號4
DOIs
出版狀態已發佈 - 四月 2013
對外發佈Yes

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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    Chen, T. H., Lai, Y. H., Lee, P. L., Hsu, J. H., Goto, K., Hayashi, Y. K., Nishino, I., Lin, C. W., Shih, H. H., Huang, C. C., Liang, W. C., Wang, W. F., & Jong, Y. J. (2013). Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment. Neuromuscular Disorders, 23(4), 298-305. https://doi.org/10.1016/j.nmd.2013.01.005