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

Research output: Contribution to journalArticlepeer-review

43 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)298-305
Number of pages8
JournalNeuromuscular Disorders
Issue number4
Publication statusPublished - Apr 2013
Externally publishedYes


  • Cardiac conductive defect
  • EcoRI fragment
  • Facioscapulohumeral muscular dystrophy
  • Infantile onset
  • Restrictive ventilatory defect

ASJC Scopus subject areas

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


Dive into the research topics of 'Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment'. Together they form a unique fingerprint.

Cite this