The classical forms of desminopathy are autosomal dominant and affect an essentially adult population. Belgian neuropediatricians report the exceptional case of a sibling of two children with an autosomal recessive form:
- the muscle deficit started in childhood and worsened rapidly afterwards;
- a pathological variant of the DES gene coding for desmin was identified when present on both alleles;
- signs of extensive fibrosis in the myocardium were detected by cardio-MRI whereas conventional examinations (ECG, echocardiography) were normal.
The prognosis of these recessive forms is a priori negative but difficult to predict.
