Rehabilitative Approach to a Patient with Facioscapulohumeral Dystrophy and Hip Fracture

Authors

Keywords:

facioscapulohumeral dystrophy, hip fracture, rehabilitation.

Abstract

Facioscapulohumeral dystrophy is a genetically based progressive myopathy (4q35), with great phenotypic variability. It is characterized by the progression of dystrophic changes in the craniocaudal direction with asymmetric lesions of the facial muscles, shoulder girdle, shoulders, and legs. We report the rehabilitation approach in a female patient with facioscapulohumeral dystrophy and hip fracture treated by total hip arthroplasty. A rehabilitation program was included and improvement in pain control and functionality was observed. Rehabilitation is a fundamental pillar in the comprehensive management of patients with muscular dystrophy and hip fracture.

Downloads

Download data is not yet available.

Author Biographies

Yunia Herbania Labrada Rodriguez, Hospital Guadarrama, Madrid

Especialista en Medicina Física y Rehabilitación

Ola Mohamed Fathy Kamal, Hospital Clínico San Carlos. Madrid.

Residente de Medicina Física y Rehabilitación

Rocio Conde Rodríguez, Hospital Guadarrama. Madrid.

Diplomada en Fisioterapia

References

Ibarra Lúzar JI, Pérez Zorrilla E, Fernández García C, Madruga Carpintero FJ. Distrofia facioescapulohumeral. Variedad clínica y visión rehabilitadora de nuestra casuística. Rehabilitación. 2004 [acceso 10/10/2021];38(5): 235-240. DOI: 10.1016/S0048-7120(04)73466-0

Hamel J, Tawil R. Distrofia muscular facioescapulohumeral: actualización sobre patogenia y tratamientos futuros. Neuroterapéutica. 2018 Oct [acceso 10/10/2021];15(4): 863-871. DOI: 10.1007 / s13311-018-00675-3

Das S, Chadwick BP. Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells. PLoS One. 2016 [acceso 10/10/2021];11(7):e0160022. DOI: 10.1371 / journal.pone.0160022

Van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, et al. Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. Am J Hum Genet. 2016 [acceso 10/10/2021];98(5):1020–1029. DOI: 10.1016/j.ajhg.2016.03.013

De Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, et al. Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model. Hum Mol Genet. 2018 [acceso 10/10/2021];27(4):716–731. DOI: 10.1093/hmg/ddx437

Park HJ, Lee W, Kim SH, Lee JH, Shin HY, Kim SM, et al. FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1. Yonsei Med J. 2018 [acceso 10/10/2021];59(2):337–340. DOI: 10.3349/ymj.2018.59.2.337

Jones T, Jones PL. A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. PLoS One. 2018 [acceso 10/10/2021];13(2):e0192657. DOI: 10.1371/journal.pone.0192657

Zernov NV, Guskova AA, Skoblov MY. FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach. Diagnostics (Basel). 2021 May [acceso 10/10/2021];11(6):982. Disponible en: https://doi.org/10.3390/diagnostics11060982

Zernov N, Skoblov M. Correlaciones genotipo-fenotipo en FSHD. BMC Med Genomics. 2019 [acceso 10/10/2021];12(Supl 2):43. DOI: 10.1186 / s12920-019-0488-5

Rappoport J, Figueroa M, Albán M, Silva JJ, Carrasco J. Plastia de la pared abdominal. Nueva alternativa en el manejo de la distrofia muscular facioescapulohumeral. Revista Hispanoamericana de Hernia. 2013 [acceso 10/10/2021];1(3):109-112. Disponible en: https://www.sciencedirect.com/science/article/pii/S225526771300008X?via%3Dihub

Earle N, Bevilacqua JA. Distrofias musculares en el paciente adulto. Revista Médica Clínica Las Condes. 2018 [acceso 10/10/2021]; 29(6): 599-610. Disponible en: https://www.sciencedirect.com/science/article/pii/S0716864018301160?via%3Dihub

Lombardo ME, Carraro E, Sancricca C, Armando M, Catteruccia M, Mazzone E, et al. Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019). Acta Myol. 2021 Jun 30 [acceso 10/10/2021];40(2):72-87. DOI: 10.36185/2532-1900-046

Granata C, Giannini S, Villa D, Bonfiglioli Stagni S, Merlini L. Fractures in myopathies. Chir Organi Mov. 1991 Jan-Mar [acceso 10/10/2021];76(1):39-45. Disponible en: https://pubmed.ncbi.nlm.nih.gov/1893785/

López Sánchez A. Intervención de Terapia Ocupacional en la Distrofia Muscular de las Cinturas y Fractura de Cadera: a propósito de un caso. Universidad de Salamana, Facultad de Psicología; 2016 [acceso 10/10/2021]. Disponible en: https://gredos.usal.es/bitstream/handle/10366/133299/TFG_LopSanA_Intervencion.pdf?sequence=1&isAllowed=y

Lunde A, Tell GS, Pedersen AB, Scheike TH, Apalset EM, Ehrenstein V, et al. The Role of Comorbidity in Mortality After Hip Fracture: A Nationwide Norwegian Study of 38,126 Women With Hip Fracture Matched to a General-Population Comparison Cohort. Am J Epidemiol. 2019 [acceso 10/10/2021];188(2):398. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357811/

Neuman MD, Silber JH, Magaziner JS, Passarella MA, Mehta S, Werner RM. Survival and functional outcomes after hip fracture among nursing home residents. JAMA Intern Med. 2014 [acceso 10/10/2021];174(8):1273. Disponible en: https://pubmed.ncbi.nlm.nih.gov/25055155/

Mariconda M, Costa GG, Cerbasi S, Recano P, Aitanti E, Gambacorta M et al. The determinants of mortality and morbidity during the year following fracture of the hip: a prospective study. Bone Joint J. 2015 [acceso 10/10/2021]; 97-B(3):383. Disponible en: https://pubmed.ncbi.nlm.nih.gov/25737523/

Scottish Intercollegiate Guidelines Network (SIGN). Management of hip fracture in older people. A national clinical guideline. SIGN publication no.111. Edinburgh: SIGN; 2009 [acceso 10/10/2021]. Disponible en: https://www.google.com/search?q=Scottish+Intercollegiate+Guidelines+Network+(SIGN).+Management+of+hip+fracture+in+older+people.+A+national+clinical+guideline.+SIGN+publication+no.111.+Edinburgh%3A+SIGN%3B+2009&rlz=1C1CHBD_esES908ES908&oq=Scottish+Intercollegiate+Guidelines+Network+(SIGN).+Management+of+hip+fracture+in+older+people.+A+national+clinical+guideline.+SIGN+publication+no.111.+Edinburgh%3A+SIGN%3B+2009&aqs=chrome..69i57j69i59.2051j0j7&sourceid=chrome&ie=UTF-8

New Zeland Guidelines Group (NZCG). Best practice evidence- based guideline. Acute management and inmediate rehabilitation after hip fracture amongst people aged 65 years and over. Wellington; 2003 [acceso 10/10/2021]. Disponible en: https://www.moh.govt.nz/NoteBook/nbbooks.nsf/0/BF485CCA409F38C5CC256DCE0070F7B5/$file/Hip_Fracture_Management.pdf

Politano L, Scutifero M, Patalano M, Sagliocchi A, Zaccaro A, Civati F, et al. Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions. Acta Myol. 2017 Mar [acceso 10/10/2021];36(1):19-24. Disponible en: https://pubmed.ncbi.nlm.nih.gov/28690390/

Vita GL, Stancanelli C, La Foresta S, Faraone C, Sframeli M, Ferrero A, et al. Psychosocial impact of sport activity in neuromuscular disorders. Neurol Sci. 2020 Sep [acceso 10/10/2021]; 41(9):2561-2567. DOI: 10.1007/s10072-020-04345-1

Published

2022-09-21

How to Cite

1.
Labrada Rodriguez YH, Mohamed Fathy Kamal O, Conde Rodríguez R. Rehabilitative Approach to a Patient with Facioscapulohumeral Dystrophy and Hip Fracture. Revista Cubana de Ortopedia y Traumatologí­a [Internet]. 2022 Sep. 21 [cited 2025 Feb. 2];36(3). Available from: https://revortopedia.sld.cu/index.php/revortopedia/article/view/522

Issue

Section

Presentación de casos

Most read articles by the same author(s)