Perfil demográfico y clínico-funcional de pacientes con atrofia muscular espinal atendidos en el Instituto Teletón Santiago / Demographic and clinical-functional profile of patients with spinal muscular atrophy attending Instituto Teletón Santiago

Introducción: La atrofia muscular espinal (AME) es una enfermedad neuromuscular (ENM) severa caracterizada por la degeneración de las motoneuronas alfa del asta anterior de la médula espinal, generando una debilidad progresiva de la musculatura proximal. La incidencia mundial se estima en 1/6.000-10.000 nacidos vivos. Contamos con escasos datos de las características de los pacientes con AME en la población chilena. Objetivo: Determinar magnitud, características demográficas y clínico funcionales de los pacientes con AME atendidos en el Instituto Teletón Santiago (ITS). Pacientes y Método: Estudio descriptivo transversal, basado en revisión del sistema informático ITS, fichas clínicas y encuesta telefónica. Resultados: Se identificaron 62 pacientes con AME con controles en ITS, 49 (79%), fueron incluidos. 30,6%, 36,7% y 32,7% corresponden a pacientes con AME 1, 2 y 3 respectivamente. Edad promedio 10,6 ± 6,6 años; pérdida de marcha edad mediana de 6,8 años en pacientes AME 3. 67,3% requieren algún tipo de asistencia ventilatoria, 44,9% presentan trastornos de deglución, 75,5% escoliosis, 49,0% subluxación o luxación de cadera, 79,6% retracciones articulares y 65,3% dolor. En participación, el 83% de las actividades de ocio se realizan dentro del hogar, principalmente de tipo tecnológico; 77,5% realiza salidas sociales. Conclusión: Las características clínico funcionales de los pacientes con AME, evidencian un grupo que presenta un alto nivel de dependencia en todos los tipos de la enfermedad, múltiples comorbilidades y alteraciones músculo-esqueléticas secundarias y por ello requiere de un programa de rehabilitación multidisciplinaria tal como lo describe la literatura internacional.

Introduction: Spinal muscular atrophy (SMA) is a severe neuromuscular disease (NMD) characterized by the loss of alpha motor neurons of the anterior horn of the spinal cord, causing progressive weakness of proximal muscles. Global prevalence is estimated to be 1/6,000-10,000 live births. There is limited data on SMA patients in the Chilean population. Objective: To establish the scale, demographics and functional-clinical characteristics of SMA patients attending Instituto Teletón Santiago (ITS). Patients and Method: Cross-sectional, descriptive study based on the review of ITS's data information system, clinical records and telephone surveys. Results: 62 SMA patients were identified attending regular controls at ITS, 49 (79%) were included in the study. 30.6%, 36.7% and 32.7% correspond to SMA 1, 2 or 3, respectively. Average age 10.6 ± 6.6 years; loss of gait at a median age of 6.8 years in SMA 3 patients. 67.3% require some type of breathing assistance, 44.9% have swallowing problems, 75.5% scoliosis, 49% hip dislocation or subluxation, 79.6% contracture of joints and 65.3% pain. In terms of social participation, 83% of recreational activities are carried out indoors, mainly related to the use of technology; and 77.5% go out to take part in social activities. Conclusion: Functional-clinical characteristics of SMA patients show that there is a group with high levels of dependence in all types of the disease, multiple concurrent disorders and secondary musculoskeletal conditions, and therefore, in the necessity to have a multidisciplinary rehabilitation system, as described in international literature.

Amiotrofia espinhal progressiva "tipo IV": aspectos clínicos e reabilitação / Spinal muscular atrophy

Amiotrofia Espinhal Progressiva (AEP) é um grupo genético que causa degeneração às células do corno anterior da medula resultando em fraqueza muscular progressiva e atrofia muscular. A fisioterapia tem como objetivo minimizar as deformidades músculo-esqueléticas e as complicações respiratórias, além de aumentar sobrevida e melhorar qualidade de vida. Este estudo apresenta a evolução, nos aspectos clínico-funcional e reabilitação aplicada, do caso de uma paciente portadora de AEP "tipo IV" com quadro de atrofia generalizada acompanhada por fadiga muscular e adptações biomecânicas que refletiram no padrão postural e da marcha repercutindo negativamente nas funções motora e respiratória.

Fisioterapia no enfrentamento de perdas em pacientes com doenças neurológicas / Physiotherapy in the process of coping with the losses in patients with neurological diseases

As doenças neurológicas são comuns em nosso meio e, muitas vezes, trazem limitações ao indivíduo, quando não, são progressivas e submetem o indivíduo ao enfrentamento diário de perdas. que culminam na finitude da vida dele. A abordagem de temas como perdas e luto antecipatório ainda é pouco difundida entre os profissionais fisioterapeutas. O presente trabalho procurou compreender o processo de reestruturação frente à crise do adoecer e a participação no tratamento, a experi~encia em relação às viv~encias de perdas e ao trabalho do profissional fisioterapeuta. Este é um estudo qualitativo que, por meio da realização de uma entrevista semi-estruturada com seis pacientes neurológicos, pretendeu compreender a vivência de pacientes neurológicos frente às suas perdas, e consequentemente, o enfrentamento delas. As respostas obtidas foram agrupadas em seis categorias de análise: não ter ciência sobre o porblema, difícil aceitação do diagnóstico, as atividades básicas são as maiores dificuldades, a adaptação às perdas é um processo, esperança de melhora, a fisioterapia auxilia no enfrentamento das perdas. Apesar de os entrevistados apresentarem quadros clínicos diversos (Doença de Parkinson, Esclerose Múltipla, Atrofia muscular Espinal e Lesão Medular Traumática), o reconhecimento dos benefícios que a fisioterapia proporciona foi unânime. Os relatos desta pesquisa nos permitem considerar que a fisioterapia ajuda os pacientes neurológicos no enfrentamento de suas perdas, especialmente as perdas físicas. A fisioterapia paliativa deve ser mais discutida, para que seja desenvolvida de forma adequada

The neurological diseases are frequent and many times cause limitations which being progressive force the person to face the daily losses which can lead to death. Approaching themes such as losses and antecipatory mourning is a rare practise among physiotherapists. The present study aimed at understanding the process of restructure when facing the crisis of the disease, the participation in the treatment, the experiences gained when dealing with losses and the work of the physiotherapist. It is a qualitative study which, through carrying out a semi-structured interview with six patients, intended to understand the life experience of neurological patients when dealing with their losses and later facing them. The answers were groupedinto six analysis categories: not knowing the problem, difficult acceptance of the diagnosis, the basic daily activities are the biggest difficulties, adaptation to the damages is a process, hope to get better, physiotherapy helps to cope with the loss. Although the interviewee presented different clinic, the regognition of the benefits given by Physiotherapy was unanimous. The accounts in this research allow us to conclude that Physiotherapy helps the neurological patients to face their losses, specially the physical ones. The palliative physiotherapy must be more discussed and studied to get better results.

Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander): evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool

We added hydrotherapy to 50 patients with spinal muscular atrophy (SMA) who were being treated with individual convencional physiotherapy. Hydrotherapy was performed at an approximate temperature of 30 degrees Celsius, twice a week, for thirty minutes in children and for forty-five minutes in adults during a 2-year period. The outcome derived from this combined modality of treatment was rated according to physiotherapeutic evaluations, the MMT (Manual Muscular Test), and the Barthel Ladder. Patients were reevaluated at 2-month intervals. After two years of ongoing treatment, we were able to observe that the deformities in hip, knee and foot were progressive in all SMA Type II patients, and in some Type III. Muscle strength stabilized in most SMA Type III patients, and improved in some, MMT was not done in SMA Type II. In all patients we were able to detect an improvement in the Barthel Ladder scale. This study suggests that a measurable improvement in the quality of daily living may be obtained in patients with SMA Types II and III subjected to conventional physiotherapy when associated with hydrotherapy.