Nemaline myopathy associated with submucosal cleft palate and heart disease: report of a clinical case
Keywords:
Nemaline myopathy, congenital heart disease, submucosal cleft palateAbstract
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, se-
verity 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 extremi-
ties; 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 diag-
nosis of nemaline myopathy associated with submucosal cleft palate and heart disease.
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