Dados do Trabalho

Título

SMA type I - report of the evolution of a patient with treatment.

Apresentação do caso

Schoolgirl, female, 9 years, evaluated at four months with maternal report of hypotonia similar to another child, now deceased, who was diagnosed with SMA type 1. On this occasion, it was possible to observe tongue myofasciculations, generalized muscle weakness, global areflexia and hypotonia accentuated when the diagnosis was already suspected. At 6 months she started nocturnal ventilatory support and at 7 months she underwent GTT due to frequent choking. At 1 1/2 years old, she had 3/5 strength in her upper limbs and 2/5 in her lower limbs. She performed a genetic test that confirmed the homozygous deletion in exon 7 of the SMN1 gene and 2 copies of SMN2. At 2 and a half years old, she was evaluated by the Chop Intend scale with a score of 13/64. In 2018, at age 6, the patient showed a worsening on the Chop Intend scale with a score of 10/64. In 2019, at 6 1/2 years, she started the intrathecal infusion of nusinersene. During treatment, there was improvement in cervical support, less dependence on ventilatory assistance, motor gains mainly in the extremities that allow the use of cell phones, in addition to the ability to phonate short words. In July 2022, she was evaluated again with a score of 29/64 on the Chop Intend scale, proving the gains.

Discussão

SMA is a genetic disease of autosomal recessive, degenerative inheritance, its classification is based on the age of onset of symptoms, being divided into five subtypes. In children with type I, the average survival is seven months, with respiratory infections being the main cause of death. In April 2019, the MS incorporated nusinersena into the SUS for the treatment of SMA type I. The drug is indicated for the treatment of patients with SMA with a deletion or mutation in the SMN1 gene located on chromosome 5q and acts on the production of the SMN protein, reducing the loss of motor neurons improving muscle strength and tone. It is important to have multidisciplinary follow-up, reducing complications such as respiratory infections, tendon retractions and reduced joint mobility, so that the gains with the medication are maximum.

Comentários finais

SMA is a degenerative disease and for many years it remained with a reserved prognosis, now with the evolution of the treatment we can observe a gain in quality and years of life. In this case, there was an improvement in the movement of fingers and hands, axial and ventilatory strength, corroborated by the increase in the scores on the scales, even with a late start of the medication.

Referências (se houver)

Atrofia Muscular Espinhal (AME). Disponível em: . Acesso em: 3 ago. 2022.

ZANOTELI, E. et al. Disponível em: . Acesso em: 3 ago. 2022.

Atrofia Muscular Espinhal – AME. Disponível em: . Acesso em: 3 ago. 2022.

Disponível em: . Acesso em: 3 ago. 2022.

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