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5q Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease that causes weakness in the limbs, trunk, diaphragm, and bulbar muscles; without treatment it can lead to severe motor disability and even death. The Food and Drug administration (FDA) and COFEPRIS (Mexico's Federal Committee for Protection against Sanitary Risks) have approved 3 therapies to increase the production of survival motor neuron (SMN) protein and improve muscle strength and quality of life in patients: nusinersen, onasemnogene abeparvovec xioi, and risdiplam. Despite the fact that these therapies have shown efficacy, at the moment it is not possible to establish which of them is superior compared to the others. The most important thing is to establish the diagnosis of the disease and start any of the available treatments to avoid further functional disability and prevent death. The 3 treatments have different mechanisms of action and different adverse effects, and the use of each of them must be individualized according to the patient's profile., (Licencia CC 4.0 (BY-NC-ND) © 2024 Revista Médica del Instituto Mexicano del Seguro Social.)

OBJETIVO: Avaliar o resultado do tratamento cirúrgico da escoliose em pacientes com atrofia muscular espinhal (AME) tipo 2. MÉTODO: Estudo retrospectivo com 12 pacientes portadores de AME tipo 2 submetidos à artrodese e instrumentação para correção da escoliose com mais de dois anos de seguimento. Foi avaliado o grau e percentual de correção da deformidade e da obliquidade pélvica no pós-operatório e a perda na última avaliação, além das complicações e o impacto do tratamento sobre a função respiratória. RESULTADOS: O seguimento médio foi de 77,5 meses (6,4 anos) ± 58,9 meses (4,9 anos), o ângulo de Cobb pré-operatório médio foi de 76,1° ± 31,7° (35° a 144°) e no pós-operatório de 29,5° ± 23,2° (5° a 90°), com a correção média de 46,6° (61,29%). A obliquidade pélvica média no pré-operatório foi de 15,1° ± 13,3° (variação de 0° a 37°), e no pós-operatório de 8,5° ± 9,9° (variação de 0° a 30°), com uma correção média de 6,5° (43,37%). Cinco pacientes tiveram complicações (41,6%). A Capacidade Ventilatória Forçada (CVF) média pré-operatória foi de 62,9% ± 38,6% (variação de 23,3% a 89%) e de 45,9% ± 25,0% (variação de 15% a 86,2%), na última avaliação. O declínio foi de 17% da capacidade vital, com redução de 2,4% por ano de seguimento. CONCLUSÕES: O tratamento cirúrgico da escoliose em pacientes com AME permite corrigir a obliquidade pélvica e restabelecer o balanço sagital e coronal liberando as mãos para as atividades da vida diária. A função pulmonar foi afetada positivamente pelo tratamento.OBJETIVO: Evaluar los resultados del tratamiento quirúrgico de la escoliosis en pacientes con atrofia muscular espinal (AME) de tipo 2. MÉTODOS: Estudio retrospectivo de 12 pacientes con atrofia muscular espinal tipo 2 que fueron sometidos a artrodesis e instrumentación para la corrección de la escoliosis, con más de dos años de seguimiento. En la última evaluación, se evaluaron el grado y el porcentaje de corrección de la deformidad y la oblicuidad pélvica después de la operación y la pérdida, además de las complicaciones y el impacto del tratamiento sobre la función respiratoria. RESULTADOS: El promedio de seguimiento fue 77,5 meses (6,4 años) ± 58,9 meses (4,9 años), el ángulo de Cobb antes de la cirugía en promedio 76,1° ± 31,7° (35° a 144°) y el postoperatorio fue 29,5° ± 23,2° (5° a 90°), con un promedio de corrección de 46,6° (61,29%). La oblicuidad pélvica promedio en el preoperatorio fue 15,1 ° ± 13,3° (variación de 0 ° a 37 °) y después de la operación 8,5° ± 9,9° (variación de 0° a 30°), con una corrección promedio de 6,5 ° (43,37%). Cinco pacientes presentaron complicaciones (41,6%). La Capacidad Ventilatoria Forzada (CVF) preoperatoria promedio fue 62,9% ± 38,6% (variación de 23,3% a 89%), y 45,9% ± 25,0% (variación de 15% a 86,2%) en la última evaluación. La disminución fue de 17% de la capacidad vital, con una reducción de 2,4% por año de seguimiento. CONCLUSIONES: El tratamiento quirúrgico de la escoliosis, en pacientes con AME, permite la corrección de la oblicuidad pélvica y restaurar el equilibrio sagital y coronal, liberando las manos para las actividades de la vida diaria. La función pulmonar se vio afectada positivamente por el tratamiento.OBJECTIVE: To evaluate the outcome of surgical treatment of scoliosis in patients with spinal muscular atrophy (SMA) type 2. METHODS: A retrospective study with 12 patients with SMA type 2 who underwent arthrodesis and instrumentation for scoliosis correction with more than two years of follow-up. The degree and rate of correction of deformity and pelvic obliquity postoperatively and loss in the last evaluation were evaluated, in addition to the complications and the impact of treatment on respiratory function. RESULTS: Mean follow-up was 77.5 months (6.4 years) ± 58.9 months (4.9 years), Cobb angle before surgery averaged 76.1° ± 31.7° (35° to 144°) and postoperatively was 29.5° ± 23.2° (5° to 90°), with correction average of 46.6° (61.29%). The average pelvic obliquity preoperatively was 15.1° ± 13.3° (range 0° to 37°), and 8.5° ± 9.9° (range 0° to 30°) postoperatively, with an average correction of 6.5° (43.37%). Five patients had complications (41.6%). The forced ventilatory capacity (FVC) preoperative average was 62.9% ± 38.6% (range 23.3% to 89%) and 45.9% ± 25.0% (range 15% to 86.2%) in the last evaluation. The decline was 17% of vital capacity, with a reduction of 2.4% per year of follow-up. CONCLUSIONS: Surgical treatment of scoliosis in patients with SMA allows the correction of pelvic obliquity and restoration of the sagittal and coronal balance freeing the hands for activities of daily living. Lung function was positively affected by treatment.

Introduction: Spinal muscular atrophy is a rare genetic neurodegenerative disorder affecting the motor neurons of the anterior horn of the spinal cord, which results in muscle atrophy and weakness. In Colombia, few studies have been published on the pathology and none with functional analysis. Objective: To characterize clinically and functionally some cases of spinal muscular atrophy patients from Central-Western Colombia. Materials and methods: We conducted a cross-sectional descriptive study between 2007 and 2020 with patients clinically and molecularly diagnosed with spinal muscular atrophy who attended a care center. For the functional assessment we used the Hammersmith and Chop-Intend scales and the data were systematized with the Epi-Info, version 7.0 software. Results: We analyzed 14 patients (42.8 % men). The most prevalent spinal muscular atrophy was type II with 71.4 %. We found phenotypic variability in terms of functionality in some patients with type II spinal muscular atrophy, 37.5 % of whom reached gait. Survival was estimated at 28.6 years. Conclusions: The findings in the group of patients analyzed revealed that the scores of the revised and expanded Hammersmith scales correlated with the severity of SMA.

The objective of this paper is to explore the postural effect of galvanic vestibular stimulation (GVS) in camptocormia. It is a retrospective case series of 7 Parkinson disease and camptocormia patients. Binaural monopolar GVS was administered. Main outcome variable was trunk forward flexion (TFF), assessed pre and immediately post GVS, and one month after. The TFF was assessed in the standing position, with open and closed eyes. The Berg balance scale was assessed before and 1 month after GVS. The TFF immediately after the GVS showed a reduction of 2.3 cm (p = 0.091) in the first reading, and after a 1-min stance (p = 0.025). Four of 5 patients maintained or even improved this effect a month after (p = 0.082). No changes in Berg balance scale were observed. Our results suggest an acute improvement in posture after one session of GVS, which significantly decreased TFF. Most of the results had a marginal significance due to small sample size., (Copyright © 2021 Sociedad Española de Rehabilitación y Medicina Física. Publicado por Elsevier España, S.L.U. All rights reserved.)