Abstract
1600/5000 The book focuses on the issue of incurable progressive neuromuscular disease of spinal muscular atrophy (SMA). Describes the ethical aspects of helping SMA families and serious decisions about the need to connect to artificial lung ventilation.
Spinal muscular atrophy is a clinically heterogeneous group of inherited degenerative diseases affecting the anterior corners of the spinal cord and often the motor nuclei of the head nerves. Occurrence in the population is approximately 1 newborn per 6000 births and the transmission of this disease is about 1 person out of 40.
The individual is at a certain stage of his life - according to the degree and type of affection - dependent on a mechanical or electric carriage, in many cases artificial lung ventilation and permanent 24-hour assistance from another person. The book describes family escorting from diagnosis through multidisciplinary cooperation, early child care and support including disease description, genetic aspects of illness and nutrition in SMA patients, and therapeutic therapies including surgical solutions to neuromuscular spinal deformities.
It also provides an overview of quality compensation aids and offers the option of palliative care in the family. An interesting part of the book is also a case study of successful integration in inclusive education with many photographs from the life of SMA children, life stories of adults and assessment of the perception of quality of life.
The publication also includes information about the target group - caregivers of a family with a rare disease in selected areas of socio-psychological stability, interaction with the social environment, assessment of opportunities, risks, problems and opportunities related to the fact of family member care.