Matching pairs difficulty in children with spinal muscular atrophy type I

Polido, Graziela Jorge; Barbosa, Alessandra Ferreira; Morimoto, Carlos H.; Caromano, Fátima Aparecida; Fávero, Francis Meire; Zanoteli, Edmar; Reed, Umbertina Conti; Voos, Mariana Callil

doi:10.1016/j.nmd.2017.01.017

Cited by 20 publications

(42 citation statements)

References 27 publications

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“…Com a evolução da doença surgem: paresia, amiotrofia, arreflexia e fasciculações 16 . De acordo com a capacidade funcional e com o prognóstico, a AME é classificada em quatro fenótipos 1,5 . Na AME tipo I, ou doença de Werdnig-Hoffmann, a evolução natural é o óbito antes dos 2 anos de idade em mais de 80% dos casos 5 , geralmente por insuficiência respiratória, ao menos que sejam instituídas medidas de suporte ventilatório.…”

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“…3 Os primeiros sintomas são observados antes dos 6 meses de vida, quando a criança não consegue manter-se sentada devido à atrofia 1,5 . Na AME tipo II, os pacientes conseguem sentar sem auxílio, porém ficam impossibilitados de deambular, com surgimento dos primeiros sinais entre 6 e 18 meses 1,5 .…”

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“…Na AME tipo II, os pacientes conseguem sentar sem auxílio, porém ficam impossibilitados de deambular, com surgimento dos primeiros sinais entre 6 e 18 meses 1,5 . No tipo III o paciente consegue andar sozinho, apesar de alguma dificuldade, e na maioria dos casos atinge uma expectativa de vida normal.…”

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“…No tipo III o paciente consegue andar sozinho, apesar de alguma dificuldade, e na maioria dos casos atinge uma expectativa de vida normal. Por último, no tipo IV, o quadro inicia-se na fase adulta de modo mais brando 1,3,5 .…”

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“…Atrofia Muscular Espinhal (AME) tipo I, ou doença de Werdnig-Hoffmann é uma doença neuromuscular de origem genética, autossômica recessiva, que resulta em atrofia muscular progressiva e fraqueza 1,2 . É causada por baixos níveis da proteína de sobrevivência do neurônio motor (SMN) devido à mutações na decodificação do gene SMN-1 3 , localizado no cromossomo 5q13 4,5 .…”

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Atrofia muscular espinhal tipo I: aspectos clínicos e fisiopatológicos

Chrun

Costa

Miranda

et al. 2017

Rev. Med. (São Paulo)

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Discussão: A doença de Werdnig-Hoffmann, atrofia muscular espinhal tipo I, é uma doença hereditária caracterizada pela atrofia e fraqueza muscular progressiva, resultando em elevada e precoce mortalidade. As atrofias musculares espinhais são doenças neuromusculares caracterizadas pela degeneração dos motoneurônios inferiores e são transmitidas seguindo o padrão mendeliano autossômico recessivo. Suas manifestações clínicas são: hipotonia, atrofia, debilidade muscular e diminuição ou ausência dos reflexos osteotendinosos. O tratamento inclui medidas de suporte e medicação específica, o Nusinersen (Spinraza®), administrado por via intratecal, e pode retardar ou até impedir a evolução da doença, caso seja iniciado precocemente. Conclusão: A doença tem características semelhantes na maioria dos casos e evolui de forma grave. Entretanto, o tratamento emergencial e intensivo, incluindo a medicação específica e atuação de equipe multidisciplinar, pode redefinir e prolongar a sobrevida dos pacientes.Descritores: Atrofia muscular espinal/fisiopatologia; Atrofias musculares espinais da infância/fisiopatologia;Doenças neuromusculares; Doenças da medula espinal/fisiopatologia. ABSTRACT:Objective: To produce a literature review about etiology, diagnosis, treatment and future perspectives around spinal muscular atrophy type I (Werdnig-Hoffmann disease). Methods: Using databases like Medline, Lilacs and Scielo; the most important articles about this issue were chosen, using the keywords: spinal muscular atrophy; spinal muscular atrophy of childhood; neuromuscular diseases; spinal cord diseases; Werdnig-Hoffmann disease. Results: 68 articles were collected. After analysis process, 43 studies which focus on the clinical and/or pathophysiological aspects, were selected. Discussion: Werdnig-Hoffmann disease, the spinal muscular atrophy type I, is a hereditary disorder that causes progressive hypotony and muscular weakness. This process evolves with the loss of essential functions, resulting in high and early mortality. The spinal muscular atrophies are neuromuscular diseases characterized by degeneration of lower motor neurons. They are transmitted following the pattern mendelian autosomal recessive. The clinic signs are: hypotony, atrophy, muscular weakness and decrease or absence of osteotendinous reflexes. Treatment includes supportive care and specific medication, Nusinersen (Spinraza®), administered by intrathecal injection, and can delay or even stop disease progression if started early. Conclusions: The sickness has similar features on most cases and worsens sorely. However, the intensive and immediate treatment, with the specific medication and the multidisciplinary team -can promote a better quality of life to patients.

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Atrofia muscular espinhal tipo I: aspectos clínicos e fisiopatológicos

Chrun

Costa

Miranda

et al. 2017

Rev. Med. (São Paulo)

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Severe brain involvement in 5q spinal muscular atrophy type 0

Mendonça

Rocha²,

Lozano-Arango

et al. 2019

Annals of Neurology

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Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy

Al-Zaidy¹,

Pickard

Kotha

et al. 2018

Pediatric Pulmonology

146

121

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Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by 13.6 months. This study assessed the health outcomes of SMA1 infants treated with AVXS‐101 gene replacement therapy. Methods Twelve genetically confirmed SMA1 infants with homozygous deletions of the SMN1 gene and two SMN2 gene copies received a one‐time intravenous proposed therapeutic dose of AVXS‐101 in an open label study conducted between December 2014 and 2017. Patients were followed for 2‐years post‐treatment for outcomes including (1) pulmonary interventions; (2) nutritional interventions; (3) swallow function; (4) hospitalization rates; and (5) motor function. Results All 12 patients completed the study. Seven infants did not require noninvasive ventilation (NIV) by study completion. Eleven patients had stable or improved swallow function, demonstrated by the ability to feed orally; 11 patients were able to speak. The mean proportion of time hospitalized was 4.4%; the mean unadjusted annualized hospitalization rate was 2.1 (range = 0, 7.6), with a mean length of stay/hospitalization of 6.7 (range = 3, 12.1) days. Eleven patients achieved full head control and sitting unassisted and two patients were walking independently. Conclusions AVXS‐101 treatment in SMA1 was associated with reduced pulmonary and nutritional support requirements, improved motor function, and decreased hospitalization rate over the follow‐up period. This contrasts with the natural history of progressive respiratory failure and reduced survival. The reduced healthcare utilization could potentially alleviate patient and caregiver burden, suggesting an overall improved quality of life following gene replacement therapy. Trial registration http://ClinicalTrials.gov number, NCT02122952.

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Matching pairs difficulty in children with spinal muscular atrophy type I

Cited by 20 publications

References 27 publications

Atrofia muscular espinhal tipo I: aspectos clínicos e fisiopatológicos

Atrofia muscular espinhal tipo I: aspectos clínicos e fisiopatológicos

Severe brain involvement in 5q spinal muscular atrophy type 0

Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy

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