Examination of Operative Approach in pwFSHD (Patient With Facioscapulohumeral Muscular Dystrophy)

NCT05022355 | Completed

• 1 other identifier: 38981562-900-
• Study Type: observational
• Target: 24
• Locations: 1 country
• Sites: 1

Brief Summary

Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most common forms of muscular dystrophy, characterized by pronounced skeletal novelistic weakness and with a broad spectrum of diseases. It is a hereditary disease seen in 3-5/100,000 of society, usually starting with weakness in the facial and shoulder muscles and progressing to the trunk, pelvis and leg muscles, giving symptoms in the twenties. In FSHD, which shows slow progression and can lead to loss of ambulation ability in about 20% of patients, patients may have difficulty performing activities above shoulder level with the influence of the periscapular area. Skeletal muscle weakness leads to posture and balance disorders, and postural instability is a common problem in patients with FSHD. Weakness of the trunk and lower limb muscles found in more than half of patients causes problems with postural balance and walking. The calf, iliopsoas, and gluteus maximus muscles together form the main determinants of walking speed in healthy people, where kalf muscles are known to contribute the most. Individuals with FSHD have been reported to have decreased speed, step length, and step frequency compared to healthy controls. Impaired upper body control can compromise the maintenance of dynamic stability. In patient with FSHD the effects of muscle tone, motor coordination, loss of joint range of motion and muscle weakness on posture, balance control and gait are observed more clearly. The aim of the study was to compare the effects of scapular management treatments on balance and gait in FSHD patients. H0: There is no difference in balance and walking parameters of patients with FSHD who have had scapulothoracic arthrodesis surgery and have not undergone surgery. H1: There is a difference in balance and walking parameters of patients with FSHD who have had scapulothoracic arthrodesis surgery and have not undergone surgery.

Conditions

Facio-Scapulo-Humeral Dystrophy

Keywords

scapulotorasic arthrodesis; balance; gait; evaluation; usual care

Outcome Measures

Primary Outcomes (2)

• 10 meter walking test

  during the test, the patient is asked to walk at a normal walking speed at a distance of 10 meters determined before the test. The time it has traveled the specified distance is recorded. It is a long-term performance test used for dynamic balance assessment.

  once at baseline of study

• Gait Analyzer

  It is a smartphone-based application for analyzing walking parameters in real time. It can measure walking speed, step time, step length, cadence and symmetry.

  once at baseline of study

Secondary Outcomes (6)

• Berg Balance Scale

  once at baseline of study

• Disabilities of the arm, shoulder and hand (DASH)

  once at baseline of study

• 30 seconds sit up test

  once at baseline of study

• 2-minute walk test

  once at baseline of study

• Single leg stance test

  once at baseline of study

Study Arms (2)

scapulothoracic arthrodesis

Individuals diagnosed with FSHD who have undergone unilateral or bilateral surgery who meet the inclusion criteria. application of determined outcome scales on patients

non-operative

Participants diagnosed with FSHD who have not undergone any surgery, who meet the inclusion criteria. application of determined outcome scales on patients

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Patients diagnosed with FSHD and undergoing scapulothoracic arthrodesis or non-operating

You may qualify if:

• years
• Score between 0,5 and 3,5 according to CSS (clinical severity rating)
• Score between 3 and 5 according to FAS (functional ambulation scale)
• Being included in the surgical group the patient has undergone unilateral or bilateral scapulothoracic arthrodesis surgery

You may not qualify if:

• Presence of lower extremity orthopedic problems/problems that can cause balance and walking problems
• Presence of any other upper limb orthopedic problems/problems and surgery
• Having undergone Spinal fusion surgery
• Presence of additional neurological problems/problems
• Having a level of visual and auditory problems that will prevent communication

Sponsors & Collaborators

• Istanbul University - Cerrahpasa: lead

Study Sites (1)

Istanbul University-Cerrahpaşa

Istanbul, 34500, Turkey (Türkiye)

Location

Related Publications (14)

• Fecek C, Emmady PD. Facioscapulohumeral Muscular Dystrophy. 2023 Jun 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK559028/

  PMID: 32644454 BACKGROUND

• Rijken NH, van Engelen BG, Weerdesteyn V, Geurts AC. Clinical Functional Capacity Testing in Patients With Facioscapulohumeral Muscular Dystrophy: Construct Validity and Interrater Reliability of Antigravity Tests. Arch Phys Med Rehabil. 2015 Dec;96(12):2201-6. doi: 10.1016/j.apmr.2015.08.429. Epub 2015 Sep 9.

  PMID: 26363336 BACKGROUND

• Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006 Jul;34(1):1-15. doi: 10.1002/mus.20522.

  PMID: 16508966 BACKGROUND

• Bayram S, Kendirci AS, Karalar S, Durmus Tekce H, Parman FY, Akgul T, Durmaz H. Correlations between radiographic spinopelvic parameters and health-related quality of life: A prospective evaluation of 37 patients with facioscapulohumeral muscular dystrophy. Clin Neurol Neurosurg. 2020 Nov;198:106137. doi: 10.1016/j.clineuro.2020.106137. Epub 2020 Aug 5.

  PMID: 32791439 BACKGROUND

• Padua L, Aprile I, Frusciante R, Iannaccone E, Rossi M, Renna R, Messina S, Frasca G, Ricci E. Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. Muscle Nerve. 2009 Aug;40(2):200-5. doi: 10.1002/mus.21308.

  PMID: 19609906 BACKGROUND

• Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bonnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC; Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Mar 31;84(13):1369-78. doi: 10.1212/WNL.0000000000001416.

  PMID: 25825463 BACKGROUND

• Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M; Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Jul 28;85(4):357-64. doi: 10.1212/WNL.0000000000001783.

  PMID: 26215877 BACKGROUND

• Le Hanneur M, Saint-Cast Y. Long-term results of Letournel scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A retrospective study of eight cases. Orthop Traumatol Surg Res. 2017 May;103(3):421-425. doi: 10.1016/j.otsr.2016.12.012. Epub 2017 Jan 31.

  PMID: 28159680 BACKGROUND

• Kord D, Liu E, Horner NS, Athwal GS, Khan M, Alolabi B. Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review. Shoulder Elbow. 2020 Apr;12(2):75-90. doi: 10.1177/1758573219866195. Epub 2019 Aug 14.

  PMID: 32313557 BACKGROUND

• Statland JM, Tawil R. Risk of functional impairment in Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2014 Apr;49(4):520-7. doi: 10.1002/mus.23949. Epub 2014 Feb 10.

  PMID: 23873337 BACKGROUND

• Iosa M, Mazza C, Pecoraro F, Aprile I, Ricci E, Cappozzo A. Control of the upper body movements during level walking in patients with facioscapulohumeral dystrophy. Gait Posture. 2010 Jan;31(1):68-72. doi: 10.1016/j.gaitpost.2009.08.247. Epub 2009 Sep 25.

  PMID: 19782569 BACKGROUND

• Rijken NH, van der Kooi EL, Hendriks JC, van Asseldonk RJ, Padberg GW, Geurts AC, van Engelen BG. Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement. Neuromuscul Disord. 2014 Dec;24(12):1087-96. doi: 10.1016/j.nmd.2014.05.012. Epub 2014 Jun 26.

  PMID: 25176503 BACKGROUND

• Aprile I, Padua L, Iosa M, Gilardi A, Bordieri C, Frusciante R, Russo G, Erra C, De Santis F, Ricci E. Balance and walking in facioscapulohumeral muscular dystrophy: multiperspective assessment. Eur J Phys Rehabil Med. 2012 Sep;48(3):393-402. Epub 2012 Jun 20.

  PMID: 22713540 BACKGROUND

• Rijken NH, van Engelen BG, de Rooy JW, Weerdesteyn V, Geurts AC. Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness. Gait Posture. 2015 Feb;41(2):476-81. doi: 10.1016/j.gaitpost.2014.11.013. Epub 2014 Dec 2.

  PMID: 25687333 BACKGROUND

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Ipek Yeldan, PhD

  Istanbul University - Cerrahpasa

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: BSc

Study Record Dates

• First Submitted: August 21, 2021
• First Posted: August 26, 2021
• Study Start: November 27, 2021
• Primary Completion: February 23, 2022
• Study Completion: August 16, 2022
• Last Updated: November 8, 2022

Record last verified: 2022-11

Locations

TU (1)