Ulla Werlauff, PhD, The Danish Rehabilitation Centre for Neuromuscular Diseases, discusses the effect of medical treatment in non-ambulatory patients with spinal muscular atrophy (SMA).
SMA is a group of genetic neuromuscular disorders due to mutations along the SMN1 gene. The net result is atrophy of motor neurons that causes progressive muscle weakness and loss of movement. SMA mainly affects the muscles involved in walking, sitting, arm movement, and head control. Breathing and swallowing may also become difficult as the disease progresses. SMA type 1, 2, 3, and 4 relate to the severity of the condition and are linked to genetic changes in the SMN1 gene as well as the number of copies of the nearby related gene, SMN2. There are other rarer types of SMA caused by changes in different genes.
Study
The objective of the study was to examine functional capacity in non-ambulant patients with SMA ages 11 to 25 years. These patients were observed prior to receiving medical treatment and six months after start-up. Questions were geared toward learning about their hopes, expectations, and experiences relating to the medical treatment.
59 participants took the online physical assessment while eleven people met the criteria for treatment. Of those eleven, nine participated in the baseline and follow-up assessment. Following the second physical assessment, participants were asked about their experience and whether their hopes and expectations had been met.
From the physical function assessments, Brooke upper limb function ranged from 1-2 and RULM hand function score was 2-5 at both assessments. Median EK2 sum-score was 24 initially and 23 at follow-up while median FSS sum-score was 16 initially and 15 at follow-up. Overall, physical function and fatigue perception were stable after six months of treatment.
All participants expressed the expectation that the medical treatment would have a positive impact on their quality of life. After six months of treatment, seven experienced improved quality of life. Additionally, 5/8 had their hopes fulfilled and 7/9 had their expectations met and noted unexpected improvements in physical function.
For more information, click here.
To learn more about SMA and other rare musculoskeletal disorders, visit https://checkrare.com/diseases/musculoskeletal-diseases/
