Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment
Mihaela Axente,
Andrada Mirea,
Corina Sporea,
Liliana Pădure,
Cristina Manuela Drăgoi,
Alina Crenguța Nicolae,
Daniela Adriana Ion
Affiliations
Mihaela Axente
Faculty of Medicine, University of Medicine and Pharmacy “Carol Davila”, 37 Dionisie Lupu Street, 020021 Bucharest, Romania
Andrada Mirea
National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Corina Sporea
National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Liliana Pădure
National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu”, 44 Dumitru Minca Street, 041408 Bucharest, Romania
Cristina Manuela Drăgoi
Department of Biochemistry, Faculty of Pharmacy, “Carol Davila” University of Medicine and Pharmacy, 020956 Bucharest, Romania
Alina Crenguța Nicolae
Department of Biochemistry, Faculty of Pharmacy, “Carol Davila” University of Medicine and Pharmacy, 020956 Bucharest, Romania
Daniela Adriana Ion
Department of Pathophysiology, National Institute for Infectious Diseases Prof. Dr. Matei Balș, Carol Davila University of Medicine and Pharmacy, 1 Calistrat Grozovici Street, 021105 Bucharest, Romania
In the new therapeutic era, disease-modifying treatment (nusinersen) has changed the natural evolution of spinal muscular atrophy (SMA), creating new phenotypes. The main purpose of the retrospective observational study was to explore changes in clinical evolution and electrophysiological data after 2 years of nusinersen treatment. We assessed distal compound motor action potential (CMAP) on the ulnar nerve and motor abilities in 34 SMA patients, aged between 1 and 16 years old, under nusinersen treatment, using specific motor scales for types 1, 2 and 3. The evaluations were performed at treatment initiation and 26 months later. There were registered increased values for CMAP amplitudes after 2 years of nusinersen, significantly correlated with motor function evolution in SMA type 1 patients (p p < 0.0001) and correlated with treatment yield. A strong negative correlation (r = −0.633) was observed for SMA type 1 and a very strong negative correlation (r = −0.813) for SMA type 2. In treated SMA cases, the distal amplitude of the CMAP and motor functional scales are important prognostic factors, and early diagnosis and treatment are essential for a better outcome.
