All Articles in march, 2024

Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA.

The authors are searchers in psychopathology and communicate here about the dead wishes in relation to euthanasia. In Europe, the question comes regularly up to know if the law should be changed concerning the prohibition of euthanasia. The health system obeys progressively a modern idea of comfort and the “good life”. The authors are psychotherapists and their methodology is based mainly on phenomenological psychology, psychoanalysis, and psychopathology. Statistics of the French Ministry of Health will support their statements. Different clinical experiences with young patients, aging patients, or near-to-death patients are crossed and compared to those marked by heavy experiences like rape or amputation. The unbearable nature of their suffering makes them ask frequently to stop the pain. They would prefer being dead. This contribution examinates this kind of demand to find a helpful position for the caregiver and the patient. We should consider that near-death patients may often be at the climax of anxiety and depression is likely to switch over to dementia. In asking to finish with life, this purpose may change one day to another – sometimes it just highlights the wish to see things changed. The position of society and the medical staff has a high influence as well. Asking for euthanasia shows the variety of the same words that have different meanings from a medical, psychological, or psychopathological viewpoint. The purpose is to consider these aspects with the patient’s demand.