Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3.

INTRODUCTION: Nusinersen antisense oligonucleotide infusions have been shown to be effective in the treatment spinal muscular atrophy. The majority of the evidence has been collected in young type 1 and type 2 patients, and evidence of efficacy in adult patients is limited. CASE REPORT: A 48-year-old woman with spinal muscular atrophy type 3 who has received the loading dose and 8 maintenance infusions over an 8-month period. Grip and pinch strength, measured by hand-held dynamometry measured at baseline and in 6 to 12 months interval improved over a 24-month period. She also reported multiple other subjective improvements in function. CONCLUSIONS: This is the first published case of nusinersen in a middle-aged adult with spinal muscular atrophy. Sustained clinically meaningful improvement may be possible with nusinersen initiation in mid adulthood.

Shoulder Pain Among Patients With Amyotrophic Lateral Sclerosis: A Case Series.

IMPORTANCE: Evidence has demonstrated that shoulder pain constitutes a functional impairment for patients with amyotrophic lateral sclerosis (ALS). No studies have yet examined the efficacy of scapular mobilization of the painful shoulder among patients with ALS. OBJECTIVE: Our retrospective case series evaluated the effects of scapular mobilization on pain and shoulder motion among patients with ALS. DESIGN: Retrospective case series over 2 yr. SETTING: A multidisciplinary outpatient clinic at an academic medical institution. PARTICIPANTS: Twenty-eight patients with ALS who had shoulder pain and range of motion (ROM) limitations. Patients were excluded if information on visual analog scale (VAS) score for pain and shoulder ROM was not available. INTERVENTION: Scapular mobilization, ROM, and caregiver education. All patients also received standard occupational therapy treatment for this patient population. OUTCOMES AND MEASURES: The primary outcome was VAS shoulder pain scores; the secondary outcome was shoulder flexion ROM. RESULTS: The median VAS pain score was 2 before treatment and 0 after treatment, with a significant median reduction of 2. Median shoulder flexion ROM was 100° before mobilization treatment and 130° after treatment, with a significant median increase of 25°. CONCLUSION AND RELEVANCE: The results provide strong evidence that both VAS pain score and shoulder ROM noticeably improve after mobilization treatment. WHAT THIS ARTICLE ADDS: Occupational therapists can effectively promote shoulder care techniques such as scapular mobilization to both patients and care providers to reduce pain and improve quality of life for patients with ALS.