Recessive forms of desminopathy remain exceptional and very serious

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.


A severe form of familial desminopathy due to a homozygous nonsense DES variant in two siblings Claes L, Van Schil K, Dewals W et al. Neuropediatrics. 2022 Jun 8.