Journal of Neuromuscular Diseases - Volume 2, issue 4

Authors: Johnson, Nicholas E. | Hung, Man | Nasser, Eriko | Hagerman, Katharine A. | Chen, Wei | Ciafaloni, Emma | Heatwole, Chad R.

Article Type: Research Article

Abstract: Background: The rate of symptom progression during pregnancy in myotonic dystrophy (DM) is not currently known. Further, there is little data regarding the rate of pregnancy complications and neonatal outcomes in DM. Objective: This study assesses symptom progression and complication rates during pregnancy in women with DM. Methods: DM women completed surveys regarding their prior pregnancies. Participants identified complications during their pregnancies and completed the Myotonic Dystrophy Health Index-Short Form (MDHI-SF) to measure their disease burden and identify the severity of select symptoms six-months prior to, during, and six-months after their first pregnancy. Results: …152 women with DM reported on 375 pregnancies. Among these pregnancies, there was a 32.5% miscarriage rate. Some complications were common including: pre-term labor (27.8%), pre-eclampsia (10.4%), and peripartum hemorrhage (13.9%). Participants’ perception of their mobility and ability to perform activities, as measured by the MDHI-SF, worsened during pregnancy and did not recover during the post-partum period. Discussion: Miscarriage, maternal disease progression during pregnancy, and other pregnancy related complications may occur in DM. Women with DM should be counseled on these potential risks prior to considering pregnancy. Show more

Keywords: Myotonic dystrophy, patient reported outcomes, pregnancy complications, neuromuscular disease

DOI: 10.3233/JND-150095

Citation: Journal of Neuromuscular Diseases, vol. 2, no. 4, pp. 447-452, 2015

Authors: Catteruccia, Michela | Vuillerot, Carole | Vaugier, Isabelle | Leclair, Danielle | Azzi, Viviane | Viollet, Louis | Estournet, Brigitte | Bertini, Enrico | Quijano-Roy, Susana

Article Type: Research Article

Abstract: Background: Scoliosis is the most debilitating issue in SMA type 2 patients. No evidence confirms the efficacy of Garches braces (GB) to delay definitive spinal fusion. Objective: Compare orthopedic and pulmonary outcomes in children with SMA type 2 function to management. Method: We carried out a monocentric retrospective study on 29 SMA type 2 children who had spinal fusion between 1999 and 2009. Patients were divided in 3 groups: group 1-French patients (12 children) with a preventive use of GB; group 2-French patients (10 children) with use of GB after the beginning of the scoliosis curve; …and group 3-Italian patients (7 children) with use of GB after the beginning of the scoliosis curve referred to our centre to perform orthopedic preoperative management. Results: Mean preoperative and postoperative Cobb angle were significantly lower in the group 1 of proactively braced than in group 2 or 3 (Anova p  = 0.03; Kruskal Wallis test p  = 0.05). Better surgical results were observed in patients with a minor preoperative Cobb angle (r  = 0.92 p  <  0.0001). Fewer patients in the group 1 proactively braced required trunk casts and/or halo traction and an additional anterior fusion in comparison with patients in the group 2 and 3. Moreover, major complications tend to be less in the group 1 proactively braced. No significant differences were found between groups in pulmonary outcome measures. Conclusions: A proactive orthotic management may improve orthopedic outcome in SMA type 2. Further prospective studies comparing SMA management are needed to confirm these results. Level of Evidence: Therapeutic Level III. See Instructions to Authors on jbjs.org for a complete description of levels of evidence (Retrospective comparative study). Show more

Keywords: Spinal muscular atrophy, orthotic device, scoliosis, spinal fusion

DOI: 10.3233/JND-150084

Citation: Journal of Neuromuscular Diseases, vol. 2, no. 4, pp. 453-462, 2015

Authors: Montes, Jacqueline | Garber, Carol Ewing | Kramer, Samantha S. | Montgomery, Megan J. | Dunaway, Sally | Kamil-Rosenberg, Shirit | Carr, Brendan | Cruz, Rosangel | Strauss, Nancy E. | Sproule, Douglas | De Vivo, Darryl C.

Article Type: Research Article

Abstract: Background: The benefits of exercise on long-term health and well-being are well established. The possible benefits of exercise in Spinal Muscular Atrophy (SMA) have not been explored in a controlled clinical trial format. Objective: To assess the effects of exercise on measures of function, strength, and exercise capacity in ambulatory SMA patients. Methods: Fourteen participants, ages 10–48 years, were randomized to control and exercise cohorts after a 1 month lead-in period. The exercise group received 6 months of intervention. Thereafter, both groups received the intervention for the remaining 12 months. Participants were monitored for a total …of 19 months. Exercise included individualized home-based cycling and strengthening. The primary outcome measure was distance walked during the six-minute walk test (6MWT). Secondary outcomes included strength, function, exercise capacity, quality of life and fatigue. Results: Twelve participants completed the first 7 months of the study, and 9 completed all 19 months. At baseline, the groups were similar on all clinical variables. There were no group changes at any time point in the 6MWT, fatigue, or function. Percent-predicted VO2 max improved 4.9% in all participants in 6 months (p  = 0.036) (n  = 10). Conclusion: Daily exercise is safe in ambulatory SMA and should be encouraged. We did not uncover any deleterious effects on strength, function, or fatigue. Our study documented a reduction in oxidative capacity and a blunted conditioning response to exercise possibly representing an important insight into underlying pathophysiological mechanisms. These findings also may be linked causally to mitochondrial depletion in SMA and warrant further study. Show more

Keywords: Spinal muscular atrophy, exercise, six minute walk test, strength, aerobic

DOI: 10.3233/JND-150101

Citation: Journal of Neuromuscular Diseases, vol. 2, no. 4, pp. 463-470, 2015

Article Type: Other

Citation: Journal of Neuromuscular Diseases, vol. 2, no. 4, pp. 471-476, 2015