Bahena-Martínez E, Fernández-Valverde F, Vargas-Cañas S, Jiménez-Fosado JC

Language: Spanish
References: 18
Page: 60-65
PDF size: 181.16 Kb.

ABSTRACT

Congenital myopathies are a heterogeneous group of neuromuscular diseases of genetic origin. Nemaline myopathy pathology is an important part of this group of diseases; its incidence is 1 in 50,000 live births. Depending on the degree of muscle weakness, severity and age of onset, these are classified into six subtypes. The main clinical features are hypotonia or generalized weakness in facial muscles, axial and proximal extremities; however, the presence of heart disease is rare. In this study we present the case of a patient without important heredofamilial or neuromuscular antecedents with a diagnosis of nemaline myopathy associated with submucosal cleft palate and heart disease.

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