Spinal Muscle Atrophy: Clinical Cases

AbstractSpinal muscular atrophy (EBF) is an autosomal recessive neuromuscular disease with genetic inheritance. EBF is classified into: type I - patients have symptoms up to 6 months of age; type II - after 6 months of age, symptoms begin; type III - it starts after 18 months of age. The objective of this study was to clinically characterize two brothers diagnosed with EBF. It is a clinical case study of two individuals, male gender, attended at Clinica Escola de Fisioterapia, at Universidade Estadual do Centro Oeste do Parana- UNICENTRO, Campus CEDETEG. Selected by eligibility both were diagnosed with spinal muscular atrophy. The physiotherapy stages evaluation was carried out, which consist of anamnesis, functional examination, physical examination and respiratory evaluation. Patient 1, was diagnosed with EBF type IIIb at 16 years old, with reports of falls and weakness mainly in lower limbs, in the evaluation positive Gowers sign, anserine gait, hypotonic, MMSS areflexia and lower limb hyporeflexia, breathing pattern apical were found. Patient 2 was diagnosed with EBF type IIIa at 1 year of age, currently using a wheelchair for locomotion, on physical examination he had scoliosis with right convexity, deformities in the costal grid, decreased muscle strength in the upper limbs and lower limbs, mixed respiratory pattern. From the physical therapy evaluation performed on these patients, it could be noted that the weakness of the respiratory muscles is directly related to the clinical sign presented by both. Keywords: Physiotherapy Specialty. Neuromuscular Diseases. Spinal Muscular Atrophy. ResumoA atrofia muscular espinhal (AME) e uma doenca neuromuscular autossomica recessiva com heranca genetica. A AME e classificada em: tipo I – pacientes apresentam sintomas ate 6 meses de idade; tipo II – apos os 6 meses de idade inicia-se os sintomas; tipo III – inicia-se apos 18 meses de idade. O objetivo desse trabalho foi caracterizar clinicamente dois irmaos com diagnostico de AME. E um estudo de casos clinicos de dois individuos, do genero masculino, atendidos na Clinica Escola de Fisioterapia, da Universidade Estadual do Centro Oeste do Parana – UNICENTRO, Campus CEDETEG. Selecionados por elegibilidade ambos diagnosticados com atrofia muscular espinhal. Foram realizadas as etapas da avaliacao fisioterapeutica que consistem em anamnese, exame funcional, exame fisico e avaliacao respiratoria. O paciente 1, foi diagnosticado com AME tipo IIIb aos 16 anos, com relatos de quedas e fraqueza principalmente em MMII, na avaliacao constatou-se, sinal de Gowers positivo, marcha anserina, hipotonico, arreflexia de MMSS e hiporeflexia de MMII, padrao respiratorio apical. O paciente 2 recebeu o diagnostico de AME tipo IIIa com 01 ano de idade, atualmente utiliza cadeira de rodas para locomocao, no exame fisico apresenta escoliose com convexidade a direita, deformidades no gradil costal, forca muscular diminuida em MMSS e MMII, padrao respiratorio misto. A partir da avaliacao fisioterapeutica realizada nesses pacientes, pode-se notar que a fraqueza dos musculos respiratorios esta diretamente relacionada com o quadro clinico apresentado por ambos. Palavras-chave: Fisioterapia. Doencas Neuromusculares. Atrofia Muscular Espinhal.