Skip to content
DraconiticResearch
Search Sources API
190,869 studies31 sourcesUpdated 53 min ago
Peer-reviewedCC BY-NC-NDHuman genomics

Emanuel syndrome: a physiotherapy overview.

5 affiliations
  1. 1Institute of Public Health, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
  2. 2Department of Physiotherapy, College of Health Sciences, Gulf Medical University, Ajman, United Arab Emirates.
  3. 3School of Psychology & Public Health, La Trobe University, Melbourne, VIC, Australia.
  4. 4Department of Physiotherapy, Dubai Physiotherapy and Rehabilitation Centre, Dubai, United Arab Emirates.
  5. 5Institute of Public Health, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. [email protected].

Abstract

Background

Emanuel syndrome is a rare chromosomal disorder arising from an unbalanced translocation between chromosomes 11 and 22, leading to severe developmental delays, and multisystem impairments. Physiotherapy supports motor function in affected children.Case report/results

An 8-year-old boy with Emanuel syndrome, received five physiotherapy sessions targeting strengthening, trunk control, and balance, with exercises also engaging lower-limb flexibility as part of functional movement practice. Improvements were observed in dynamic sitting balance, calf flexibility, and hand function, before therapy was discontinued.Conclusion

Individualized physiotherapy can provide meaningful gains, though limited adherence restricts long-term assessment. Greater awareness and timely multidisciplinary care remain important for optimising functional outcomes.

Related

  1. First Case of H Syndrome in Northern Morocco: Clinical Features and Literature Overview
    H Jelti, A Lamaibdel, S Bouressas +3
    Balkan journal of medical genetics : BJMGPeer-reviewedCC BYFull textGenetics & genomicsEurope PMC
  2. Expert Consensus-Based Clinical Practice Guidelines for Care and Weaning Procedures in Tracheostomized ICU Patients after Invasive Mechanical Ventilation: A Joint Statement by the Intensive Care Physiotherapy Society (SKR) and the French Intensive Care Society (SRLF)
    Clément Medrinal, Julie Delemazure, Manon Billard +22
    Annals of Intensive CarePeer-reviewedCC BY2 citedGeneral biologyHAL
  3. Physiotherapy Educational Intervention for Occipital Positional Plagiocephaly Prevention: a Multicentre Randomised Controlled Trial
    V. Fortini, F. Picone, S. Giustini +5
    medRxivPreprintCC BY-NC-NDFull textGenetics & genomicsmedRxiv
  4. Novel Therapeutic Targets and Approaches, Genetic Markers and Signaling Pathways in Neoplasms—An Overview
    Daria Chudakova
    CellsPeer-reviewedCC BY 4.0Cell biologyCrossref
  5. Overview of Regulatory Guidelines Related to Methods and Models for Small Populations
    Laurens Sluijterman, Letao Li, Kristin E. Karlsson +4
    Clinical pharmacology and therapeuticsPeer-reviewedCC BY-NCFull textGeneral biologyStatisticsEurope PMCHAL
BibTeX
@article{ansari2026emanuel,
  title = {{Emanuel syndrome: a physiotherapy overview.}},
  author = {Shahwar Fatima Ansari and Mohamed Anas Mohamed and Anjela Davis Panattuparambil and Ajeesh Padinjattethil Sasidharan and Azhar Rahma},
  journal = {Human genomics},
  year = {2026},
  month = aug,
  doi = {10.1186/s40246-026-01025-7},
  url = {https://europepmc.org/article/MED/42958373},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Emanuel syndrome: a physiotherapy overview.
AU  - Shahwar Fatima Ansari
AU  - Mohamed Anas Mohamed
AU  - Anjela Davis Panattuparambil
AU  - Ajeesh Padinjattethil Sasidharan
AU  - Azhar Rahma
PY  - 2026
DA  - 2026/08/04
JO  - Human genomics
DO  - 10.1186/s40246-026-01025-7
UR  - https://europepmc.org/article/MED/42958373
AB  - Background  Emanuel syndrome is a rare chromosomal disorder arising from an unbalanced translocation between chromosomes 11 and 22, leading to severe developmental delays, and multisystem impairments. Physiotherapy supports motor function in affected children.Case report/results  An 8-year-old boy with Emanuel syndrome, received five physiotherapy sessions targeting strengthening, trunk control, and balance, with exercises also engaging lower-limb flexibility as part of functional movement practice. Improvements were observed in dynamic sitting balance, calf flexibility, and hand function, before therapy was discontinued.Conclusion  Individualized physiotherapy can provide meaningful gains, though limited adherence restricts long-term assessment. Greater awareness and timely multidisciplinary care remain important for optimising functional outcomes.
SN  - 1473-9542
SN  - 1479-7364
ER  -