An Exploratory Case Study to Support Young Children with Spinal Muscular Atrophy (SMA)

2017 ◽  
Author(s):  
Sheng Miao ◽  
Ziying Tang ◽  
Jinjuan Heidi Feng ◽  
Amanda Jozkowski ◽  
Molly Lichtenwalner
Keyword(s):  
Young Children ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Exploratory Case Study

scholarly journals AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Erect Posture ◽  
Smn1 Gene ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)

scholarly journals Reliability of the modified hammersmith functional motor scale in young children with spinal muscular atrophy

2011 ◽  
Vol 44 (2) ◽  
pp. 246-251 ◽  
Author(s):  
Kristin J. Krosschell ◽  
Charles B. Scott ◽  
Jo Anne Maczulski ◽  
Aga J. Lewelt ◽  
Sandra P. Reyna ◽  
...  
Keyword(s):  
Young Children ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals Spinal Muscle Atrophy: Clinical Cases

2021 ◽  
Vol 23 (2) ◽  
pp. 149-153
Author(s):  
Pamela Tainá Licoviski ◽  
Clara Victoria Bini ◽  
Alisson Grégori Turski ◽  
Greicy Kelly de Oliveira Bruno ◽  
Luana Cristina Borchardt ◽  
...  
Keyword(s):  
Physical Examination ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Neuromuscular Diseases ◽  
Respiratory Muscles ◽  
Lower Limbs ◽  
Respiratory Pattern ◽  
Type I ◽  
Clinical Case Study

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 Clínica Escola de Fisioterapia, at Universidade Estadual do Centro Oeste do Paraná- 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) é uma doença neuromuscular autossômica recessiva com herança genética. A AME é classificada em: tipo I – pacientes apresentam sintomas até 6 meses de idade; tipo II – após os 6 meses de idade inicia-se os sintomas; tipo III – inicia-se após 18 meses de idade. O objetivo desse trabalho foi caracterizar clinicamente dois irmãos com diagnóstico de AME. É um estudo de casos clínicos de dois indivíduos, do gênero masculino, atendidos na Clínica Escola de Fisioterapia, da Universidade Estadual do Centro Oeste do Paraná – UNICENTRO, Campus CEDETEG. Selecionados por elegibilidade ambos diagnosticados com atrofia muscular espinhal. Foram realizadas as etapas da avaliação fisioterapêutica que consistem em anamnese, exame funcional, exame físico e avaliação respiratória. O paciente 1, foi diagnosticado com AME tipo IIIb aos 16 anos, com relatos de quedas e fraqueza principalmente em MMII, na avaliação constatou-se, sinal de Gowers positivo, marcha anserina, hipotônico, arreflexia de MMSS e hiporeflexia de MMII, padrão respiratório apical. O paciente 2 recebeu o diagnóstico de AME tipo IIIa com 01 ano de idade, atualmente utiliza cadeira de rodas para locomoção, no exame físico apresenta escoliose com convexidade a direita, deformidades no gradil costal, força muscular diminuída em MMSS e MMII, padrão respiratório misto. A partir da avaliação fisioterapêutica realizada nesses pacientes, pode-se notar que a fraqueza dos músculos respiratórios está diretamente relacionada com o quadro clinico apresentado por ambos. Palavras-chave: Fisioterapia. Doenças Neuromusculares. Atrofia Muscular Espinhal.

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