E. Zanoteli

Unmet needs and gaps in the management of myasthenia gravis in Latin America: survey with experts and cost analysis

Generalized myasthenia gravis (gMG) is a rare autoimmune disease that manifests with fluctuating muscle weakness. Poor disease control may lead to myasthenic exacerbations and crises, increasing healthcare resource utilization (HCRU) and worsening quality of life. There is scant evidence on the patient profile, t...

Thymectomy outcomes in myasthenia gravis: comparative analysis between treatment before and after five years

Background: Thymectomy is one of the standard treatments for myasthenia gravis (MG) with positive anti-acetylcholine receptor antibody. It is primarily validated and performed early in the natural history of the disease. This study aimed to evaluate the benefits of thymectomy performed five years later of MG and the im...

Multimodal diagnostic tools in amyotrophic lateral sclerosis: insights from an illustrative case series

Background: ALS is a neurodegenerative disorder with a broad phenotypic spectrum. Diagnosis is challenging in non-classical presentations or early in the disease course. Beyond electromyography, complementary tests may provide evidence of lower motor neuron (LMN) and upper motor neuron (UMN) dysfunction and help exclud...

Clinical-epidemiological profile and motor function data of patients with spinal muscular atrophy and four or more copies of SMN2

Background: The clinical phenotype of individuals with Spinal Muscular Atrophy linked to chromosome 5q (SMA-5q) with four or more copies of the SMN2 gene are still poorly described, and the initiation of treatment in the pre-symptomatic phase remains controversial. Characterizing this group is essential to guide therap...

Functional assessment of patients with mitochondrial myopathy caused by POLG and mtDNA deletions

Background: Chronic Progressive External Ophthalmoplegia (CPEO) is a hallmark clinical manifestation of mitochondrial diseases, characterized by progressive weakness of the extraocular muscles and ptosis. Its genetic etiology is heterogeneous, commonly arising from either primary large-scale single mitochondrial DNA (m...

Consensus for the Diagnosis and Treatment of Patients With Spinal Muscular Atrophy (SMA) in Latin America

A practical and adaptable framework to optimize SMA care in LATAM is provided, supporting longitudinal, patient-centered clinical decision-making and incorporating real-world access considerations.

Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene