Spinal Muscular Atrophy Type 3. Other inherited spinal muscular atrophy
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Age =18 years. Homozygous deletion of exon 7 of the SMN1 gene, confirmed by a test report and a specialist physician, indicating SMA type 3 Ability to walk independently for at least 25 meters informed consent
Exclusion criteria
Exclusion criteria: History of surgery or fracture in the past six months Moderate or severe scoliosis Serum creatine kinase (CK) levels of participants above 1000 units per liter in the past three months Non-ambulatory Under the age of eighteen years The presence of any concurrent chronic diseases such as diabetes, cardiovascular diseases, kidney disease, etc. Any type of SMA other than type 3
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Muscular strength, referring to maximum voluntary isometric contraction; Function, referring to the Timed Up and Go (TUG) test, the Six-Minute Walk Test (6MWT), and the Hammersmith Functional Motor Scale Expanded (HFMSE); Quality of Life Questionnaire; Blood Biomarkers including Interleukin 6, Interferon Gamma, Tumor Necrosis Factor Alpha. Timepoint: Measurement time points will be at the beginning of the study (before the start of the intervention) and at the end of the study. Method of measurement: Handheld dynamometer for muscle strength and for functional tests according to instructions. For quality of life, the SF-36 questionnaire, and for blood biomarkers, the ELISA method and the Zellbio Germany kit. | — |
Secondary
| Measure | Time frame |
|---|---|
| Static balance, spatial and temporal gait parameters, dorsiflexion and plantar flexion angle, blood creatine kinase level, fatigue score. Timepoint: All variables at the beginning and end of the intervention were only creatine kinase levels at the beginning of the study, week 5, and at the end of the intervention. Method of measurement: For static balance, use a force plate; for spatiotemporal gait parameters, use a camera with a frame rate of 60 Hz; for dorsiflexion and plantar flexion angles, use a goniometer; for creatine kinase levels, use the ELISA method; for fatigue, use the Fatigue Severity Scale (FSS) questionnaire. | — |
Countries
Iran (Islamic Republic of)
Contacts
Faculty of Sport Sciences and Health, University of Tehran