Challenges Faced By Families of SMA Patients

Abstract

SMA, a genetic neuromuscular disease that affects the control of muscle movement and results in severe motor disorders, is among the rare diseases. Due to the low prevalence of rare diseases and serious problems with correct diagnosis, there may be delays in diagnosis. When the studies on SMA are examined, it is known that the issues related to diagnosis are mostly emphasised, but a limited number of studies have been conducted on the current issues of patients with SMA or their caregivers. In addition to studies on treatment, it would be useful to consider the patient and his/her environment together in studies on the quality of life of patients and caregivers. Examining the concept of quality of life in SMA disease will form the basis for studies on quality of life, and at the same time, the continuity of studies on the subject will be ensured. In this sense, current issues the treatment of patients diagnosed with SMA was addressed in this study. The fact that these patients experience significant deficiencies such as respiratory impairment, malnutrition and skeletal deformity causes them to face difficulties in meeting their basic needs, especially in nutrition and toileting. These problems reduce the quality of life of patients and their relatives. Therefore, early diagnosis and providing medical, psychological, and social support to patients and their relatives will be effective in their quality of life. In this review, recommendations were made to address the current issues of SMA patients and their relatives.

Keywords

• genetic neuromuscular disease
• spinal muscular atrophy
• types of spinal muscular atrophy
• treatment
• genetik nöromüsküler hastalık
• spinal müsküler atrofi
• spinal müsküler atrofi çeşitleri
• tedavi