Adult onset recessive titinopathy with EDMD-like phenotype mimicking an acquired myositis


Inflammation can be present in genetic myopathies, such as dystrophinopathies, dysferlinopathies or facioscapulohumeral muscular dystrophy. This can add confusion to diagnoses and may lead to inappropriate and deleterious immunosuppressant treatment. Rarely, inflammation has been reported in human titinopathies. We report an unusual case of myopathy with mutations in the TTN gene mimicking an acquired myositis. A 17 year old man who presented with a subacute onset of distal asymmetric weakness in lower limbs and pain, developed in the following years a proximal and distal symmetric and atrophic myopathy with severe retractions (EDMD-like phenotype) with periodical exacerbations of weakness and pain.


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