Recessive forms of desminopathy remain exceptional and very serious

The classical forms of desminopathy are autosomal dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère. 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.