Diseases of the skin. Atlas.

Desmopathy is a rare hereditary disease associated with a mutation in the DES gene, which is a kind of myofibrillar myopathy. With this disease, it is possible to damage skeletal, cardiac, smooth muscles, as well as diaphragm. In clinical practice, desminopathy is a difficult diagnostic task. In this article, the clinical case of the family form of myofibrillar myopathy with the established mutation c.1021A> C (Thr341Pro) in the DES gene in the heterozygous state is considered. We present a family study in a cumulative calculus of over 100 years describing the dynamics of clinical manifestations, morphological, cardiological and electromyographic parameters.

Key words: desmin, DES, desminopathy, myofibrillar myopathy, mutation, cancer, electromyography, heart failure

A man can talk about anything, but he only talks about himself with pleasure. :)

I realized very early on the need to move from treating one patient to treating many by creating a methodology. Remembering the French singer Edith Piaf, who said: "I don't sing for everyone - I sing for everyone" (and she sang for everyone), I also remember well the inspiration when I first thought of... phenotypic dermatology

Предыдущий разговор закончился на том, что морфологические изменения структуры кожи, изменяя его качественные характеристики, могут становиться стимулом к изменению психики пациента… читать далее