Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA

Spinal muscular atrophy (SMA) is an autosomal recessive, progressive neurodegenerative condition resulting from mutations in the survival motor neuron 1 gene (SMN1), leading to the degeneration of α-motor neurons in the spinal cord and brain stem. Historically, the disease is classified into types I-IV, with types I-III of pediatric-onset [1]. Type II SMA, with symptom onset between 6 and 18 months, is characterized by inability to achieve independent standing and walking [2,3]. As part of n atural history, there is a progressive loss of functional abilities that becomes more evident between the age of 5 and 13 years [4-6].

Source: Neuromuscular Disorders - May 8, 2024 Category: Neurology Authors: Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Francesca Salmin, Allan M Glanzman, Jaqueline Montes, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Emilio Albamonte, Tags: Research paper Source Type: research