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Título

SPINAL MUSCULAR ATROPHY TYPE 2 - USE OF NUSINERSENE IN ADULT PATIENT

RESUMO

CASE PRESENTATION:
VLO, male, 23 years old, at 6 months of age, started to develop muscle weakness, evidenced by the delay in developmental milestones. At 2 years of age, he was able to walk with support, when the hypothesis of Spinal Muscular Atrophy (SMA) type 2 was raised. which showed chronic denervation and a DNA study with mutation of the SMN 1 chromosome 5q gene (absence of exons 7 and 8).
Since then, there has been a progressive worsening of symptoms. In recent years, he developed dysphagia and dyspnea, especially during sleep, requiring CPAP. In 2021, he started treatment with intrathecal Nusinersena at a dose of 2 mg, with the first three doses administered at 14-day intervals, the fourth dose after 30 days of the third, following treatment with maintenance doses every 4 months. During therapy, an improvement in the strength of limbs and patient autonomy was observed, demonstrated by the increase in the SCORE of the HFMSE scale (Hammersmith functional motor scale expanded), from 10 to 37 points.

DISCUSSION:
SMA is an autosomal recessive genetic disease with mutation in the SMN1 (motoneuron survival 1- the gene product is a key protein for RNA division that is reduced in SMA), inhibiting functional SMN protein production and leading to degeneration of anterior horn cells in the spinal cord, which results in progressive proximal weakness with varying degrees of muscle atrophy and paralysis of the respiratory muscles. It presents a wide spectrum of clinical severity, and can be classified according to the age of onset of symptoms and the developmental milestones reached. Recently, disease-modifying therapies have emerged, such as Nusinersene, a nonsense oligonucleotide that increases the amount of complete SMN protein, thereby reducing mortality and improving the patient's respiratory and motor function. Its use is beneficial at any stage of the disease. In children, mainly, with little application in adults.

FINAL COMMENTS:
The advent of new treatments for AME has highlighted the importance of early diagnosis, allowing pre-symptomatic treatment and resulting in better quality of life for patients. More studies are needed, especially those that include the adult population with the disease, where a good response is also observed.

Palavras Chave

Spinal Muscular Atrophy; Nusinersena

Área

Neurogenética