Résumé :
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Spinal muscular atrophy (SMA) is a recessive disorder characterized by degeneration of motor neurons in the anterior horn cells of the spinal cord and the brainstem, and with, clinically progressive weakness and hypotonia. The most common SMA is caused by deletion of the survival motor neuron 1 gene (SMN1), located on chromosome 5q13. The most serious complications are restrictive lung disease, dysphagia and orthopaedic deformities. Cardiac involvement is rare and mainly secondary to the chronic respiratory insufficiency. We report a rare case of Kugelberg-Welander disease (SMA type 3) with cardiomyopathy. This 17-year-old boy presented since the age of 3 nocturnal cramps, and then developed difficulty to walk and climb stairs. Neurological examination revealed fasciculation, proximal and distal deficit of lower limbs, with mild muscular atrophy. Muscle biopsy and electromyography confirmed neurogenic muscular degeneration and homozygous deletion of SMN1 gene was found. He complaint of mild dyspnoea and respiratory exploration revealed minimal restrictive syndrome. Electrocardiography was unremarkable but echocardiography showed diffuse hypokinetic cardiomyopathy with left ventricular ejection fraction significantly decreased. We review the relevant literature and argue that patients with Kugelberg-Welander disease should be evaluated systematically for cardiac disease.
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