Spinal muscular atrophy: diagnosis, treatment and future prospects

Baioni, Mariana T. C.; Ambiel, Célia Regina

doi:10.2223/jped.1988

Cited by 24 publications

(29 citation statements)

References 49 publications

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“…It is classified by disease severity and the age at on set of symptoms, namely type I for the most severe cases and type IV for those presenting few complications 1,3,[6][7][8] . Type II SMA infants get to three point of sitting independent and present thoracic deformity because of muscle weakness, whide causes postural deviations.…”

Section: Introductionmentioning

confidence: 99%

“…Type III SMA onset occurs in older children. Patients with type III get to three point of walking, wether or not they maintain this ability throughout adulthood [1][2][3]6,7 . SMA patients present progressive symmetrical proximal weakness and hypotonia [1][2][3][4]6,8 , but there is no sensory abnormality 7 .…”

Section: Introductionmentioning

confidence: 99%

“…Patients with type III get to three point of walking, wether or not they maintain this ability throughout adulthood [1][2][3]6,7 . SMA patients present progressive symmetrical proximal weakness and hypotonia [1][2][3][4]6,8 , but there is no sensory abnormality 7 . Besides muscle weakness, respiratory 9 , orthopedic 5 , and nutritional [10][11][12] problems are particularly note wortley.…”

Section: Introductionmentioning

confidence: 99%

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Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Mainenti

Sousa

Dias

et al. 2013

J. Hum. Growth Dev.

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Introduction: spinal muscular atrophy patients present muscle weakness, orthopedic problems, nutritional complications and respiratory impairment. Lean mass and fat mass modifications are also expected in this population. Objective: to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. Methods: fourteen individuals were evaluated: seven patients in Group I of 9 (7-12) years of age, weighing 29.7 (23.5-60.0) kg; and seven children without the disease in Group II of 9 (9-12) years, weighing 31.0 (27.8-54.1) kg. Patients' monofrequency bioelectrical impedance was used for analyze body composition. Chest, hip and abdominal girths were measured by a flexible steel tape. The SPSS program was used to statistical analysis (p < 0.05). Results: patients presented higher impedance: 1416.9 (850.5-1559.1) vs 788.0 (683.6-853.8), P < 0.05; and fat percentage: 31.2 (23.9-46.6) vs 19.1 (14.9-27.0)%, P < 0.05. The difference between forced inspiration and forced expiration thorax girth was smaller for patients when comparing to Group II: 3.0 (0.8-4.4) vs. 5.0 (3.9-6.5) cm, P<0.05. Conclusions: patients with spinal muscular atrophy presented higher adiposity and lower chest expansion.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Mainenti

Sousa

Dias

et al. 2013

J. Hum. Growth Dev.

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“…Some new drugs are being tested, and others, such as valproic acid, are already known. Paralysis can be halted but not reversed (Baioni and Ambiel, 2010).…”

Section: Smamentioning

confidence: 99%

Genetic tests for low- and middle-income countries: a literature review

Maltese¹,

Poplavskaia

Malyutkina

et al. 2017

Genet. Mol. Res.

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ABSTRACT. The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of lowor middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases is not a priority. The selection criteria for the genetic tests that are discussed in this review are: i) the frequency of the genetic disease in the general population, ii) the cost and ease of execution, and iii) the report of validated methods in the literature for the diagnosis of these diseases. The goal is to promote diagnosis of genetic diseases at low-cost and with relative ease, thereby enabling appropriate treatments, reducing mortality, and preventing genetic diseases in high-risk families.

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“…Nos casos de AME tipo II, ou crônica, o paciente começa a apresentar os sintomas por volta dos 6 a 18 meses de vida, mas isso também pode ocorrer mais precocemente 7 . Inicialmente os MMSS são comprometidos, seguidos dos músculos intercostais, que posteriormente podem apresentar contraturas musculares e deformidades esqueléticas perto da adolescência 8 .…”

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Terapia Neuromotora Intensiva na Reabilitação da Atrofia Muscular Espinhal

et al. 2014

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A Atrofia Muscular Espinal (AME) é uma doença genética que afeta os motoneurônios na medula espinal, acarretando fraqueza e hipotonia muscular. Objetivo. O objetivo do presente estudo foi determinar os ganhos na função motora e sensorial de uma criança com diagnóstico de AME do tipo II submetida à Terapia Neuromotora Intensiva (TNMI). O tratamento foi realizado durante um período de cinco semanas de TNMI com uso do traje PediaSuit (órtese dinâmica). Para a avaliação foram utilizados os monofilamentos de Semmes–Weinstein, escala Gross Motor Function Measure 88 (GMFM), Dual-energy X-ray absorptiometry (DEXA) e sistema de goniometria sem fio. Resultados. Os resultados indicam ganhos sensoriais e motores, com aumento de 11% no escore total do GMFM após a TNMI. A paciente apresentou melhora na qualidade dos movimentos realizados com os membros inferiores e apresentou ganho de amplitude de movimento de quadril bilateralmente. A avaliação pelo DEXA indicou manutenção na densidade mineral óssea total e redução no percentual de gordura de 49,7% para 48,2%. Ganho significativo na massa magra total (2345 g) e de massa óssea (23g). Conclusão. Conclui-se que a TNMI associada ao uso do suit pode promover melhoras significativas na função sensorial, motora, amplitude de movimento de quadril bilateralmente e composição corporal.

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Spinal muscular atrophy: diagnosis, treatment and future prospects

Cited by 24 publications

References 49 publications

Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Genetic tests for low- and middle-income countries: a literature review

Terapia Neuromotora Intensiva na Reabilitação da Atrofia Muscular Espinhal

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