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Nemaline myopathy and severe dentofacial deformity − a case report
From Volume 11, Issue 2, April 2018 | Pages 67-73
Article
Congenital myopathies are a group of clinically and genetically heterogeneous neuromuscular disorders that present with muscle weakness and hypotonia, particularly relating to the proximal muscles. The incidence of these disorders is estimated at 6 per 100000 live births.1 Diagnosis is normally made in childhood after observation of floppy infants that fail to reach motor milestones.2 Occasionally, adult onset forms have been reported. As well as histological and clinical findings, MRI muscle imaging and genetic screening can be used to differentiate between myopathy types. Sufferers normally experience muscle weakness, muscle slowness and hypotonia and have reduced muscle mass. Lordosis (excessive inward curvature of the lower back) and a long face with a high arched palate are also characteristic of the disorder.3,4 Scoliosis has also been observed, although this may be due to patients being wheelchair bound during puberty rather than the true disease process. Patients diagnosed with congenital myopathies are at risk of premature death from respiratory failure and occasionally cardiac problems. A minority of patients have also been found to suffer mental retardation.5
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