Spinal Muscular Atrophy
Conditions
Brief summary
This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.
Detailed description
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that causes progressive muscle weakness and atrophy and eventually leads to loss of function. Despite recent advances in disease-modifying treatments, SMA can still significantly impact an individual's functioning in daily living and quality of life. This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.
Interventions
None listed
Sponsors
National Taiwan University Hospital
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
3 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Having a diagnosis of SMA with genetics confirmed as 5q SMA. * Above 3 years of age (capable of performing motor assessments).
Exclusion criteria
* Having severe respiratory and other medical conditions precluding safe participation in standardized motor function tests. * Having any orthopedic surgery during the past 6 months. * Women who are pregnant.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Revised Upper Limb Module | 15-20 minutes | The physiotherapist will perform a serious of motor test to evaluate the patient's upper limb motor function. This test is to observe the manual ability on different tasks in sitting position, including drawing along the path, opening Ziploc container, or lifting weight. And the therapist will score for each item. The Revised Upper Limb Module (RULM) are consist of 19 items. It takes about 15-20 minutes for testing. |
Countries
Taiwan
Contacts
Primary ContactHsi-Wen Huang, MSc
Backup ContactFang-Yi Huang, MSc
Outcome results
None listed