RESUMEN
Congenital myotonic dystrophy is the most severe form of inherited myotonic dystrophy, presenting with generalized muscle weakness, breathing problems, and feeding difficulties. We report a patient with congenital myotonic dystrophy who began rehabilitation early in the neonatal intensive care unit. The mother had myotonic dystrophy and experienced no complications during pregnancy. The patient was born at a gestational age of 38 weeks and 1 day, weighing 2712 g, with an Apgar score of 1/4, and was diagnosed with congenital myotonic dystrophy. Marked generalized hypotonia and respiratory compromise were observed from birth, and the patient was orally intubated and managed with a ventilator. Rehabilitation to promote sensory-motor development was started 13 days after birth. Initially, generalized muscle hypotonia and prominent limitation of joint range of motion were observed. Therefore, joint range of motion exercises, positioning, and rehabilitation of the sensory-motor system were conducted first, while monitoring circulatory and respiratory status. After weaning from the ventilator, feeding evaluation was started on the 123rd day of life. In collaboration with physicians and nurses, feeding volume was increased stepwise to safely introduce oral feeding. The infant gradually became capable of oral intake and was discharged from the hospital on the 160th day of life. In this report, we demonstrated that rehabilitation intervention for infants with congenital myotonic dystrophy from the time of admission to the neonatal intensive care unit contributed to improved motor development, initiation of oral feeding, and smooth discharge.
RESUMEN
Spinal muscular atrophy is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness due to the degeneration of motor neurons in the anterior horn of the spinal cord. We report a case of an adult patient with spinal muscular atrophy type II and difficulty holding a sitting position. The patient was evaluated before and after Nusinersen treatment and thereafter periodically for up to 3 months for motor and daily living functions. At 3 months post-treatment, the Expanded version of the Hammersmith Functional Motor Scale and the Revised Upper Limb Module, which are motor function assessment tools for evaluating spinal muscular atrophy, showed an increase of 2 points. Evaluation of daily functioning using the Canadian occupational performance measure demonstrated improvements in eating and computer finger manipulation, and these improvements were considered important in daily lives by the patient. This report shows that the Nusinersen treatment improved motor and daily life functions in a patient with spinal muscular atrophy and low motor function. The report also concludes that rehabilitation evaluation for spinal muscular atrophy should include a disease-specific assessment of motor function, combined with an assessment focusing on physical symptoms and daily life functions to capture clinical changes that are responsive to individual patients with spinal muscular atrophy.
RESUMEN
Spinal muscular atrophy is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness due to the degeneration of motor neurons in the anterior horn of the spinal cord. We report a case of an adult patient with spinal muscular atrophy type II and difficulty holding a sitting position. The patient was evaluated before and after Nusinersen treatment and thereafter periodically for up to 3 months for motor and daily living functions. At 3 months post-treatment, the Expanded version of the Hammersmith Functional Motor Scale and the Revised Upper Limb Module, which are motor function assessment tools for evaluating spinal muscular atrophy, showed an increase of 2 points. Evaluation of daily functioning using the Canadian occupational performance measure demonstrated improvements in eating and computer finger manipulation, and these improvements were considered important in daily lives by the patient. This report shows that the Nusinersen treatment improved motor and daily life functions in a patient with spinal muscular atrophy and low motor function. The report also concludes that rehabilitation evaluation for spinal muscular atrophy should include a disease-specific assessment of motor function, combined with an assessment focusing on physical symptoms and daily life functions to capture clinical changes that are responsive to individual patients with spinal muscular atrophy.