P.16.4

Abstract

Among 67 neuromuscular patients searching for psychoanalysis treatment (in the Psychoanalysis Clinic, Human Genome Center), facioscapulohumeral (FSHD) patients constitute an important group. Ten patients with clinical course ranging for very mildly to severely affected have asked for treatment with complaints of depression to date. Two patients, L. and J., described below, both with a family history of FSHD whose diagnosis were confirmed by molecular analysis, illustrate the positive effect of such approach. L., aged 45, father of three children was only mildly affected. He never told his family that he had a genetic disorder. When his younger son started to show clinical signs of FSHD he found out he could not hide it any more but did not know how to deal with this situation. After 3 months of treatment he had not only revealed the truth to his family but also had decided to launch a similar psychoanalysis approach in his home town. In his last visit he declared: “For the first time in my life I took off my shirt and enjoyed swimming in the ocean”. J., aged 31, was examined for the first time at the HGC when she was 20 years old. She referred that since she was 12 years-old she had difficulty raising her arms and she was never able to whistle. Currently, she has significant hypotonia, upper limbs proximal asymmetrical muscle weakness and atrophy, facial weakness (inability to whistle, smile and close the eyes), severe lumbar hyperlordosis, scapular winging and proximal lower limbs weakness. Her mother and other maternal relatives are also affected but less severely. After psychoanalysis treatment she abandoned her resignation “feeling” and rejected others compassion “feeling” towards her. Despite her severe body deformity she decided to pursue her dream to be a teacher and went back to college. Similarly to the first patient she is now not ashamed of her body and they found another way to cope with their own sexuality.