Dados do Trabalho

Título

Motor improvements of an adult SMA type 3 patient treated with Risdiplam

RESUMO

Introduction: Spinal Muscular Atrophy (SMA) type 3 in adulthood is still a challenge in terms of treatment response due to disease duration, previous spine fusion, and some cases may benefit from oral drug treatment.
Objective: To describe motor improvements of a patient with SMA type 3 treated with Risdiplam for 6 months.
Methods: Evaluation of motor function using Hammersmith Functional Motor Scale expanded for SMA (HFMSE) before started treatment and after 6 months of drug use.
Results and Discussion: The patient is a 38 year old female with SMA type 3 (homozygous deletion in SMN1 gene and with 3 SMN2 copies), who lost her gait at 11 years of age and was submmited to surgery for scoliosis when she was 13. Before treatment she was able to sit unsupported, transfer independently, and is able to roll over. She has shortened hip extension, knee extension and dorsal flexion and she never used orthotics. She started using Risdiplam since November 27, 2021 and scored 26 pontis in HFMSE. After 6 months treatment the patient gained 7 points in the same scale. The gains were as follows: item 3, is now able to take both upper limbs above the ear line; items 6, 7, 8 and 9, which assess rolling, and now she is able to roll without the help of the upper limbs; item 11, she is able to remain in the prone position, with support on the forearms and cervical extension; item 12, is now able to, in prone, perform cervical extension with upper limbs in an intermediate position (elbows at shoulder height). After using started treatment, patient alds presented an improvement in fatigue, more agility in everyday life, such as for transfers, and is now able to pack her body in the car without help.
Conclusion: In this specific case, even though the patient was an adult and had a previous spine surgery, treatment with Risdiplam was effective in improving motor function, such as transfers and fatigue.