Melorheostosis
Conditions
Keywords
Physical Therapy, Rehabilitation, Sclerosing Bone Disease, Case Report, Exercise
Brief summary
The aim of this study is to evaluate the effects of a structured physiotherapy and rehabilitation-based exercise program on clinical and functional parameters in a patient diagnosed with melorheostosis. This study specifically aims to assess the effects of a structured physiotherapy and rehabilitation-based intervention program, including patient education and therapeutic exercise, on lower extremity functional parameters, muscle strength, balance, and quality of life in a patient with melorheostosis. The main hypotheses: H0: A structured physiotherapy and rehabilitation-based exercise program has no effect on improvement in clinical and functional evaluation parameters in a patient with melorheostosis. H1: A structured physiotherapy and rehabilitation-based exercise program leads to improvement in clinical and functional evaluation parameters in a patient with melorheostosis.
Detailed description
Melorheostosis is a rare, chronic, and progressive sclerosing bone disorder characterized by cortical bone thickening, pain, joint stiffness, restricted mobility, and functional impairment. Due to its low prevalence, the available literature is limited, and conservative management strategies, particularly physiotherapy interventions, remain insufficiently defined. A patient diagnosed with melorheostosis who meets the inclusion criteria and is followed by an orthopedic specialist will be included in this prospective single-case study to investigate the effectiveness of a structured physiotherapy and rehabilitation-based exercise program. The patient, who is under regular physician supervision and willing to participate in the rehabilitation program, will be included in the study. The intervention approach will be based on a non-invasive, exercise-oriented physiotherapy program. The rehabilitation program will consist of patient education, diaphragmatic breathing training, and a structured exercise program including strength, flexibility, and balance components. The patient will participate in a total of 24 physiotherapy sessions, three days per week, for eight weeks. Before starting the treatment program, the patient's sociodemographic characteristics, medical history, and disease-related clinical features will be recorded using a structured evaluation form. A baseline clinical evaluation will be performed prior to the intervention. Following the baseline assessment, the individualized physiotherapy program will be implemented. Exercise intensity and progression will be adjusted according to the patient's pain level and functional capacity throughout the intervention period. Clinical and functional parameters will be evaluated before the treatment, immediately after the 8-week intervention, and at a 6-month follow-up to assess both short-term and long-term effects. Throughout the study, the patient will continue routine medical treatment and remain under physician supervision, and no changes will be made to the existing medical management.
Interventions
OTHERAssigned Interventions
Patient will receive patient education in addition to a structured exercise program. The exercise program will include progressive strengthening, flexibility, and balance-based exercises. Patient education will be delivered by targeting topics that encompass all components of the ICF framework. In addition, diaphragmatic breathing will be taught to patients prior to the exercise program. The exercise program will be conducted three times per week for 8 weeks. Baseline assessments will be performed before the intervention, and post-intervention assessments will be repeated after completion of the program. Furthermore, evaluations will be conducted again during a 6-month follow-up period.
Sponsors
Yeditepe University
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
No
Inclusion criteria
* Diagnosed with melorheostosis by a physician. * Voluntarily agreeing to participate in the study and providing written informed consent. * Being under physician follow-up for the disease. * Being 18 years of age or older. * Having the cognitive level, communication skills, and physical capacity to perform the planned exercise program.
Exclusion criteria
* Presence of additional systemic, rheumatologic, or metabolic diseases that could affect bone metabolism, other than melorheostosis. * Presence of cardiovascular, pulmonary, or neurological disease at a level that may restrict exercising. * History of surgical intervention or severe trauma within the last six months. * Presence of psychiatric or cognitive disorders that could interfere with evaluation and exercise applications. * Failure to continue the 8-week exercise program.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Pain Assessment | Baseline (Week 0), Post-intervention (Week 8), and Follow-up (Month 6) | The Visual Analog Scale (VAS) was used to evaluate pain intensity. The location and severity of the pain will be questioned. The individual's resting, activity, and nighttime pain levels were evaluated on a 10 cm horizontal line with the extremes of "0: no pain" and "10: unbearable pain". Higher values indicate severe pain. In this study, it is planned to be used to evaluate the pain intensity of the case. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| SF-12 Quality of Life Scale | Baseline (Week 0), Week 8, and Month 6. | The SF-12 is a self-reported questionnaire used to assess health-related quality of life. It evaluates both physical and mental health components, yielding two summary measures: the Physical Component Summary (PCS) and the Mental Component Summary (MCS). Scores range from 0 to 100, where higher scores indicate a better level of health and a higher quality of life. |
| Passive Knee Extension (PKE) Test | Baseline (Week 0), Week 8, and Month 6. | The PKE test is used to assess hamstring muscle flexibility. The participant is positioned supine, with the non-tested limb stabilized and the tested hip fixed at 90 degrees of flexion. As the knee is extended, the angle between the tibia and the vertical vector is measured using an inclinometer placed 15 cm distal to the tibial tuberosity. The measurement is recorded in degrees (°). A smaller angle relative to the vertical line indicates greater knee extension and better hamstring flexibility. |
| Ankle Active Range of Motion | Baseline (Week 0), Week 8, and Month 6. | Ankle AROM (dorsiflexion, plantarflexion, inversion, and eversion) is evaluated using a goniometer in standard anatomical positions. For dorsiflexion and plantarflexion, the participant is seated with knees slightly flexed; the axis of the goniometer is placed over the lateral malleolus, the stationary arm parallel to the fibular line, and the moving arm parallel to the lateral aspect of the 5th metatarsal. For inversion and eversion, the participant sits with legs hanging off the edge of the table; the axis is placed at the midpoint between the two malleoli, the stationary arm on the anterior surface of the tibia, and the moving arm parallel to the longitudinal axis of the 2nd metatarsal. All measurements are recorded in degrees (°), with higher values indicating a greater active range of motion. |
| Quadriceps Flexibility / Ely's Test | Baseline (Week 0), Week 8, and Month 6. | The Ely's test is used to assess the flexibility of the rectus femoris muscle. With the participant in a prone position and the pelvis stabilized, the examiner passively flexes the knee to its maximal limit just before compensatory pelvic flexion occurs. The maximum knee flexion angle is measured using a goniometer and recorded in degrees (°). A higher degree of knee flexion indicates greater quadriceps flexibility. |
| Gastrocnemius-Soleus Muscle Flexibility Tests | Baseline (Week 0), Week 8, and Month 6. | Flexibility of the calf muscles is assessed by measuring ankle dorsiflexion range of motion using a goniometer in standing positions. For the gastrocnemius, the participant stands facing a wall, keeps the tested knee fully extended, and shifts weight forward. For the soleus, the participant assumes a weight-bearing lunge position with the tested knee flexed, keeping both heels firmly on the floor. Measurements are recorded in degrees (°), with higher values representing greater muscle flexibility. |
| Weight-Bearing Lunge Test - WBLT | Baseline (Week 0), Week 8, and Month 6. | The WBLT evaluates closed kinetic chain ankle dorsiflexion under a loaded, functional condition. The participant performs a maximal forward lunge toward a wall, maintaining heel contact with the floor. The angle between the tibia and the vertical axis is measured using a digital inclinometer placed 15 cm distal to the tibial tuberosity. The measurement is recorded in degrees (°). Higher angle values indicate greater dorsiflexion mobility. |
| Quadriceps Muscle Strength Measurement | Baseline (Week 0), Week 8, and Month 6. | Quadriceps strength is evaluated using a digital handheld myometer (dynamometer). The participant is seated with legs hanging from the edge of the table, with both hip and knee positioned at 90 degrees of flexion. The myometer is placed on the anterior surface of the tibia, approximately 5 cm proximal to the lateral malleolus. The participant performs a maximal isometric knee extension for 5 seconds. The peak force is recorded. Higher values indicate greater quadriceps muscle strength. |
| Hamstring Muscle Strength Measurement | Baseline (Week 0), Week 8, and Month 6. | Hamstring strength is evaluated using a digital handheld myometer (dynamometer). The participant is in a prone position, and the tested knee is passively brought to an angle of 30° to 45° of flexion. The myometer is placed on the posterior surface of the tibia, just proximal to the heel (calcaneus). The peak force is recorded. Higher values indicate greater hamstring muscle strength. |
| Hip External Rotator Muscle Strength Measurement | Baseline (Week 0), Week 8, and Month 6. | Hip external rotator strength is evaluated using a digital handheld myometer. The participant is assessed in a side-lying position with the knees flexed at 90 degrees. The myometer is placed on the medial aspect of the leg, just proximal to the medial malleolus of the tested limb. The peak force is recorded. Higher values indicate greater hip external rotator muscle strength. |
| Y-Balance Test | Baseline (Week 0), Week 8, and Month 6. | The Y-Balance Test evaluates dynamic balance. The participant stands on one leg and reaches as far as possible with the contralateral leg in three directions: anterior, posteromedial, and posterolateral. To standardize the measurements, the reach distances are normalized to the participant's lower limb length, measured from the anterior superior iliac spine (ASIS) to the medial malleolus. Higher normalized composite scores indicate better dynamic balance and stability. |
| Feiss Line Test | Baseline (Week 0), Week 8, and Month 6. | The Feiss Line Test evaluates the height of the medial longitudinal arch and static foot posture. While the participant is seated (non-weight bearing) and then standing, the medial malleolus, navicular tubercle, and the center of the first metatarsophalangeal (MTP) joint are marked. An imaginary line (Feiss Line) is drawn between the medial malleolus and the first MTP joint. The position of the navicular tubercle relative to this line is examined to grade the arch height. |
| Navicular Drop Test | Baseline (Week 0), Week 8, and Month 6. | The Navicular Drop Test assesses excessive foot pronation and the dynamic stability of the medial longitudinal arch under load. With the participant seated (non-weight bearing) and the subtalar joint in a neutral position, the height of the navicular tubercle from the floor is measured in millimeters. The participant then stands with weight distributed evenly on both feet (weight-bearing position), and the measurement is repeated. The difference between the two measurements is recorded as the navicular drop (in mm). A higher drop value indicates greater dynamic foot pronation and reduced arch stability. |
Countries
Turkey (Türkiye)
Contacts
STUDY_CHAIRAslı Yeral, Asst. Prof. Dr.
Yeditepe University
Outcome results
None listed