start date: September 15, 2019
estimated completion: November 2021
last updated: July 7, 2021
phase of development:
Not Applicable
size / enrollment: 14
study description: Some neuromuscular diseases with myogenic or neurogenic origin present with proximal muscle weakness. These diseases preferentially affect muscles around shoulders and hips and hence are called limb girdle neuromuscular diseases (LG-NMD). Patients have difficulty in climbing stairs or hills, and reaching high shelves. The vast majority of these diseases are X-linked recessive, autosomal recessive or dominantly inherited muscular dystrophies and are called limb girdle muscular dystrophies (LGMD). Spinal muscular atrophy (SMA), a disease of motor neurons, is also characterized by progressive proximal muscle weakness. Although the diseases are progressive in both conditions, regular and proper doses of exercise starting from the early stages may delay the progression of muscle weakness and may prevent joint stiffness, and contractures.
The strengthening and aerobic exercise program increases overall wellness, condition and muscle strength in patients with neuromuscular diseases. The aerobic exercise program under supervision enhances oxidative capacity and muscle function without causing fatigue. Patients performing regular exercise program report an increase in their physical endurance, leg muscle strength and walking distance. Submaximal strengthening exercises combined with aerobic exercise are highly effective.
Regulation of the exercise program according to the needs of the patient is the most important step. Appropriate individualized exercises should be programmed by a physical medicine and rehabilitation physician and performed under the supervision of a physiotherapist in the hospital environment in order to be effective. Otherwise, success of rehabilitation and patient compliance might be reduced. With the development of technology, patients can perform exercises at their home under remote supervision by a physiotherapist via electronic connection. Therefore, the aim of our study is to investigate the effectiveness of two exercise programs supervised by a physiotherapist, performed in the hospital or at their home via electronic connection in a group of LGMD and SMA patients.
Fourteen consecutive patients from the Koç University Center for Muscle Diseases (KUCMD) diagnosed with LGMD or SMA are enrolled.
Patients followed by KUCMD outpatient clinic with proximal muscle weakness who held LGMD or SMA diagnoses will be evaluated by a physical medicine and rehabilitation physician. Demographic characteristics, Vignos scale, Brooke scale, Barthel index, upper extremity functional index, Nottingham Health profile, short form-36, 6 minute walk test and muscle thicknesses measured by ultrasound of certain muscles will be recorded. Patients will be randomized into two groups.
The first group will perform the exercises in the hospital under the supervision of a physiotherapist (Group 1: Hospital based rehabilitation group) and the second group will perform the exercises at their home under remote supervision of a physiotherapist via internet connection (Group 2: Telerehabilitation group). The exercise program will be administered 3 times in a week for 10 weeks. Patients will be examined by a blinded neurologist and functional assessments and ultrasonographic evaluations will be performed by a blinded physical medicine and rehabilitation physician before and after the rehabilitation program and at the 6th and 12th months following the completion of the rehabilitation.
One exercise session will consist of breathing, posture, dynamic core stabilization, upper and lower extremity strengthening exercises. The basic exercises from each group will be performed as 1 set of 5 repetitions at the beginning and will be gradually increased according to the tolerability of the patient. If the patient has difficulty performing the basic exercises, modifications of the relevant exercise will be applied.
primary outcomes:
- 6 minute walk test
This is a field test evaluating submaximal aerobic capacity. The individuals are asked to walk as far as possible in a 30-meter corridor in 6 minutes. The technical standards are defined by European Respiratory Society and American Thoracic Society. Six minute walking distance will be recorded. Higher walking distance shows better outcome.
- 6 months
secondary outcomes:
- Vignos scale
6 months
- Brooke scale
6 months
- Barthel index
6 months
- Nottingham health profile
6 months
- The upper extremity functional index
6 months
- Short form - 36
6 months
- Muscle size and quality
6 months
inclusion criteria:
• Eligible Ages: 18 - 50
• Eligible Sexes: all
Inclusion Criteria:
To be older than 18 years
To have proximal muscle weakness with a diagnosis of LGMD of any kind and SMA
To have ability to walk independently
exclusion criteria: Criteria:
history of cervical and lumbar radiculopathy
history of cerebrovascular disease
history of spinal cord injury
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