title: Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.
abstract: 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 (10-13kb) 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 (10-11kb, with normal length being 50-300kb) 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.
authors: Division of Pediatric Emergency, Department of Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors: Tai-Heng
authors: TH
authors: Chen
authors: Yu-Hung
authors: YH
authors: Lai
authors: Pei-Lun
authors: PL
authors: Lee
authors: Jong-Hau
authors: JH
authors: Hsu
authors: Kanako
authors: K
authors: Goto
authors: Yukiko K
authors: YK
authors: Hayashi
authors: Ichizo
authors: I
authors: Nishino
authors: Chin-Wen
authors: CW
authors: Lin
authors: Hsiang-Hung
authors: HH
authors: Shih
authors: Chao-Ching
authors: CC
authors: Huang
authors: Wen-Chen
authors: WC
authors: Liang
authors: Wen-Fu
authors: WF
authors: Wang
authors: Yuh-Jyh
authors: YJ
authors: Jong
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002894:Chromosomes, Human, Pair 4; D015331:Cohort Studies; D015246:Deoxyribonuclease EcoRI; D004827:Epilepsy / Q000209:etiology / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D056726:Genetic Association Studies; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000235:genetics; D006327:Heart Block / Q000209:etiology / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008297:Male; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D012189:Retrospective Studies; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D015246:Deoxyribonuclease EcoRI