Dados do Trabalho

Título

Triple-Furrow tongue atrophy in Nemaline Myopathy: a novel finding that changes management care

Resumo

Background and Objectives Inherited Nemaline myopathy (NM) is a clinically and genetically heterogeneous myopathy. Orofacial and bulbar muscles are commonly involved in NM patients. Previous data showed that one third of patients needed feeding tube and that dysphagia might lead to recurrent pulmonary. However there is a lack of data characterizing such a common comorbidity.
Methods: We evaluated patients with NM molecularly and/or histologically diagnosed and stratified them according to swallow function using the Neuromuscular Disease Swallowing Status Scale (NdSSS).
Results: 48 patients were seen, 33 were caused by NEB, 10 by ACTA1, 2 by TPM2 variants and 3 had no defined genetic cause. All patients presented high arched palate and most of them had facial weakness, less pronounced in the two patients with childhood onset. Neonatal dysphagia and failure to thrive was referred by 68% of the patients, half of them improved in the next few years of life. At the evaluation, around 30% used feeding device, but 20% additional, despite eating by mouth, needed to adapt their food and take supplements. Comparing ACTA1 with NEB patients, dysphagia was more common among the ACTA1 group. We described a novel finding which is tongue atrophy in a triple furrow pattern. The tongue atrophy was present 50% of the accessed patients, but it was more frequent in the dysphagic patients (83%).
Discussion: Dysphagia is a very common disability caused by NM myopathy and is present in around 50% of the patients, being more frequent in patients with ACTA1 variants. Tongue atrophy is a novel finding which is associated with dysphagia and can help us to stratify patients needing a more detailed bulbar assessment.

Palavras Chave

Nemaline Myopathy, dysphagia, triple furrow tongue