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Recent literature has reported neurodevelopmental changes in spinal muscular atrophy (SMA) type 1, especially autism spectrum disorder (ASD). Furthermore, previous reports before the advent of disease-modifying therapies suggested brain involvement in 5q-SMA. In this work, we present five SMA type 1 and pre-symptomatic patients with two copies of SMN2 who presented neurodevelopmental disorders and were submitted to brain MRI with DTI (diffusion tensor imaging). These patients presented with abnormalities in the white matter of the frontal lobes on brain MRI, which correlates with less representation association fibers (superior longitudinal fasciculus) on DTI. Brain involvement in SMA type 1 may occur even in patients treated with new disease-modifying therapies, and its correlation with neurodevelopmental disorders remains an open question. [ABSTRACT FROM AUTHOR]

To describe the changes found on ultrasound of the tongue muscles in patients with Nemaline myopathy. Early recognition of these changes is important for therapeutic guidance. Fourteen patients with a confirmed diagnosis of nemaline myopathy from a tertiary care center in Brazil were clinically evaluated and underwent ultrasound using muscle-specific setup with fixed gain (GE Logic E) with a 4 to 12 MHz transducer, evaluating the muscles of the tongue in coronal section with B-mode and M-mode, the latter being used with a plane on the digastric muscle to evaluate the number of movements performed during saliva swallowing. The muscles evaluated were the digastric, geniohyoid and genioglossus, and all ultrasound images were obtained by an experienced neurosonologist and graded on the modified Heckmatt scale (Grade 1 - normal muscle, with hypoechogenic muscle tissue and hyperechogenic connective tissue between the fibers; Grade 2 – uncertain, with increased echogenicity, but with identifiable tissue structure and no attenuation of deep tissues; Grade 3 – abnormal, with hyperechogenicity and alteration of tissue structure, with attenuation of deep tissues). Nine patients were male, aged between 1 and 54 years (median 17 years), 9 with pathogenic variants in the Nebulin gene, 4 in the ACTA1 gene and 1 inconclusive. Five patients had severe dysphagia with exclusive use of gastrostomy, five had mild dysphagia and four had normal swallowing. All patients showed involvement of the genioglossus muscle on ultrasound and seven patients had tongue atrophy on clinical examination. The geniohyoid was the least commonly affected muscle on ultrasound, being altered in only seven patients, the majority of which with tongue atrophy. The number of movements performed for swallowing was evaluated in eleven patients and was greater in patients with involvement of more than one muscle evaluated. Ultrasound of tongue muscles is capable of detecting changes in patients with nemaline myopathy even before the development of atrophy or dysphagia. The most frequently altered muscle is the genioglossus, and the other muscles and the number of movements performed for swallowing appear to be abnormal only in severe cases. [ABSTRACT FROM AUTHOR]