Challenges Faced By Families of SMA Patients

Year 2024, Volume: 7 Issue: 3, 541 - 547, 10.10.2024

Burçin Aysu , Serkan Yılmaz , Neriman Aral , Fatih Aydoğdu

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

SMA Hastalarının Ailelerinin Karşılaştığı Zorluklar

Abstract

Kas hareketinin kontrolünü etkileyen ve ciddi motor bozukluklarla sonuçlanan genetik bir nöromüsküler hastalık olan SMA, nadir görülen hastalıklar arasında yer alıyor. Nadir hastalıkların görülme sıklığının düşük olması ve doğru tanıda ciddi sorunlar yaşanması nedeniyle tanıda gecikmeler yaşanabilmektedir. SMA ile ilgili yapılan çalışmalar incelendiğinde çoğunlukla tanıya ilişkin konuların vurgulandığı ancak SMA hastası veya bakım verenlerin güncel sorunlarına yönelik sınırlı sayıda çalışmanın yapıldığı bilinmektedir. Tedaviye yönelik yapılan çalışmaların yanında hastaların ve bakım verenlerin yaşam kalitesine yönelik çalışmalarda hasta ve çevresinin birlikte ele alınmasının yararlı olacaktır. SMA hastalığında yaşam kalitesi kavramının ele alınarak incelenmesi, yaşam kalitesi ile ilgili çalışmalara temel oluşturacak, aynı zamanda konu ile ilgili çalışmaların sürekliliği sağlanacaktır. Bu anlamda bu çalışmada SMA tanısı alan hastaların tedavisindeki güncel konulara değinilmiştir. Bu hastaların solunum yetmezliği, yetersiz beslenme ve iskelet deformitesi gibi önemli eksiklikler yaşaması, beslenme ve tuvalet başta olmak üzere temel ihtiyaçlarının karşılanmasında zorluk yaşamalarına neden olmaktadır. Bu sorunlar hasta ve yakınlarının yaşam kalitesini düşürmektedir. Bu nedenle erken teşhis ve hasta ve yakınlarına tıbbi, psikolojik ve sosyal destek sağlanması yaşam kaliteleri üzerinde etkili olacaktır. Bu derlemede, SMA hastalarının ve yakınlarının güncel sorunlarına yönelik önerilerde bulunulmuştur.

Keywords

Genetik nöromüsküler hastalık, spinal müsküler atrofi, spinal müsküler atrofi çeşitleri, tedavi

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