Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia)

NCT ID: NCT05178706

Last Updated: 2023-10-12

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

36 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-02-22

Study Completion Date

2022-06-10

Brief Summary

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Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most common forms of muscular dystrophy, characterized by pronounced skeletal 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.

The goal of FSHD treatment is to improve muscle strength and/or function. Treatments include medical, conservative and surgical methods. The aim of surgical methods is to improve shoulder function and prevent pain caused by the movements of the scapula. The publications on physiotherapy interventions and aerobic exercise are available as conservative treatment. In patients diagnosed with FSHD, conservative treatment is frequently used to improve muscle strength, regulate function and improve the quality of life of patients.

Patients with FSHD use their affected upper extremities asymmetrically, which leads to the development of restrictive compensation mechanisms in the development of symmetrical postural control. Postural control deficits may occur due to limited use of the affected scapula in individuals with FSHD. Accordingly, in cases with FSHD, there is the use of atypical movements for balance and mobility. It is not yet known whether people with FSHD really have poorer dynamic stability during self-initiated whole-body movements such as walking, and at what stage of the disease these difficulties arise.

Accordingly, the aim of this study was to examine the effects of rehabilitation approaches applied to the upper limb on upper limb function, balance and walking in patients with FSHD.

H1: Within the group of patients with FSHD patients underwent surgery arthrodesis surgery scapulothoracic applied to pre-treatment with the parameters of the rehabilitation program for the evaluation of upper limb functionality after applying the upper extremities, postural control and gait parameters examined, there is statistical difference between the groups.

Detailed Description

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Voluntary participants who have been diagnosed with FSHD and agreed to voluntary health subjects will be included in the study. Signed voluntary consent will be obtained from participants. Participants will be divided into tree groups. One group will include patients who have undergone scapulothoracic arthrodesis surgery, while the other group will include patients who have not undergone surgery and control group will include participants who have agree to participate the study. A progressive rehabilitation program for the upper extremities will be applied to patients in a group of individuals who have undergone and have not undergone surgery. Both groups will undergo some outcome measures to assess their upper extremity function, balance and walking.

Conditions

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Facioscapulohumeral Muscular Dystrophy

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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non-operative conservative treatment

9 individuals diagnosed with FSHD who have not undergone unilateral or bilateral surgery who meet the inclusion criteria.

application of determined outcome scales and rehabilitation program on patients

upper extremity rehabilitation program

Intervention Type OTHER

Patients with FSHD who have undergone and have not undergone surgery will be given activity training by the same physiotherapist after they agree to participate in the study. Both groups will be given the same exercises, the same number of repetitions and the same frequency. A two-phase exercise protocol will be established and progression will be performed after 4 weeks. The exercises will be based on the upper extremity and will include various types of exercises and the primary affected November muscles in the upper extremity. It is planned that the exercises will be accompanied by a physiotherapist 2 days a week, with a total of 16 sessions for 8 weeks. It is planned that there will be a total of 8-10 exercises in 10 repetitions in the exercise program. The total length of the exercise session will be 30 minutes. It is planned that the same physiotherapist will be one-on-one with the patient from the beginning to the end of the exercises.

Results of assessment

Intervention Type DIAGNOSTIC_TEST

The total follow-up period of participants included in intervention programs will be 8 weeks. Evaluations will be evaluated by physiotherapist before and at the end of treatment.

scapulothoracic arthrodesis

9 individuals diagnosed with FSHD who have undergone bilateral surgery who meet the inclusion criteria.

application of determined outcome scales and rehabilitation program on patients

upper extremity rehabilitation program

Intervention Type OTHER

Patients with FSHD who have undergone and have not undergone surgery will be given activity training by the same physiotherapist after they agree to participate in the study. Both groups will be given the same exercises, the same number of repetitions and the same frequency. A two-phase exercise protocol will be established and progression will be performed after 4 weeks. The exercises will be based on the upper extremity and will include various types of exercises and the primary affected November muscles in the upper extremity. It is planned that the exercises will be accompanied by a physiotherapist 2 days a week, with a total of 16 sessions for 8 weeks. It is planned that there will be a total of 8-10 exercises in 10 repetitions in the exercise program. The total length of the exercise session will be 30 minutes. It is planned that the same physiotherapist will be one-on-one with the patient from the beginning to the end of the exercises.

Results of assessment

Intervention Type DIAGNOSTIC_TEST

The total follow-up period of participants included in intervention programs will be 8 weeks. Evaluations will be evaluated by physiotherapist before and at the end of treatment.

healthy control

18 participants for measuring the normative datas; application of determined outcome scales

Results of assessment

Intervention Type DIAGNOSTIC_TEST

The total follow-up period of participants included in intervention programs will be 8 weeks. Evaluations will be evaluated by physiotherapist before and at the end of treatment.

Interventions

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upper extremity rehabilitation program

Patients with FSHD who have undergone and have not undergone surgery will be given activity training by the same physiotherapist after they agree to participate in the study. Both groups will be given the same exercises, the same number of repetitions and the same frequency. A two-phase exercise protocol will be established and progression will be performed after 4 weeks. The exercises will be based on the upper extremity and will include various types of exercises and the primary affected November muscles in the upper extremity. It is planned that the exercises will be accompanied by a physiotherapist 2 days a week, with a total of 16 sessions for 8 weeks. It is planned that there will be a total of 8-10 exercises in 10 repetitions in the exercise program. The total length of the exercise session will be 30 minutes. It is planned that the same physiotherapist will be one-on-one with the patient from the beginning to the end of the exercises.

Intervention Type OTHER

Results of assessment

The total follow-up period of participants included in intervention programs will be 8 weeks. Evaluations will be evaluated by physiotherapist before and at the end of treatment.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* Individuals to be included in all groups 18-50 years
* Score between 0.5 and 3.5 according to CSS (Clinical Severity Score) of the cases to be included in the intervention groups.
* Be rated between 3-5 according to FAS (functional ambulation scale) of the cases to be included in intervention groups
* For patients who will be included in the intervention group who have undergone surgery, bilateral scapulothoracic arthrodesis surgery within 3 months at the earliest
* Individuals who will be included in the control group consisting of healthy individuals have not undergone any orthopedic surgery

Exclusion Criteria

* Having received regular physiotherapy for 1 month, at least 2 days a week in the last 6 months
* Presence of additional neurological problem/problems
* Presence of any other upper limb problem/problems and surgery
* Presence of lower limb problems/problems that can cause balance and walking problems
* Having undergone Spinal fusion surgery
* Having lower back pain described 6 and above according to VAS (Visual Analog Scale) in intervention and control groups
* Having a level of visual and auditory problems that will prevent communication
Minimum Eligible Age

18 Years

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Istanbul University - Cerrahpasa

OTHER

Sponsor Role lead

Responsible Party

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Aysenur Erekdag

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Ipek Yeldan Karagoz, PhD

Role: STUDY_DIRECTOR

Istanbul University - Cerrahpasa

Locations

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Istanbul University-Cerrahpaşa

Istanbul, , Turkey (Türkiye)

Site Status

Countries

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Turkey (Türkiye)

References

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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/

Reference Type BACKGROUND
PMID: 32644454 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 26363336 (View on PubMed)

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

Reference Type BACKGROUND
PMID: 16508966 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 25825463 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 26215877 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 32313557 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 19782569 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 25687333 (View on PubMed)

Eagle M. Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002. Neuromuscul Disord. 2002 Dec;12(10):975-83. doi: 10.1016/s0960-8966(02)00136-0. No abstract available.

Reference Type BACKGROUND
PMID: 12467755 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 23873337 (View on PubMed)

Other Identifiers

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60260273-615.98-

Identifier Type: -

Identifier Source: org_study_id

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