NURSING APPROACH IN SPINAL MUSCULAR ATROPHY

Abstract

Spinal muscular atrophy is an important genetic disease that affects motor neurons in the spine, causing muscle weakness, particularly in infancy. Spinal muscular atrophy occurs with a deletion of the survival motor neuron gene and is one of the leading causes of early death in infants. Although some drugs are used for the treatment of spinal muscular atrophy in the world and in Turkey, there is still no treatment method that provides complete recovery. The limited treatment options for spinal muscular atrophy, its inaccessibility and the poor prognosis of the disease negatively affect the quality of life of individuals and their families. All stages of the disease, starting from the diagnosis process, are very difficult for the patient and his family. A multidisciplinary approach is needed to help patients and their families cope with these difficulties. This approach includes areas such as medical care, rehabilitation, psychosocial support and education. It is essential that nurses, as key members of the health care team, improve the patient's quality of life, manage symptoms and support the individual and family in this process. In particular, supporting the patient and family in their care and educating them about their care needs is one of the most important roles of nurses. With this review, an attempt has been made to discuss the diagnostic methods, treatment process and nursing approaches of spinal muscular atrophy disease, which is a current problem in the world and in Turkey.

Keywords

• Spinal Muscular Atrophy
• Genetics Diseases
• Nursing Care

SPİNAL MÜSKÜLER ATROFİ'DE HEMŞİRELİK YAKLAŞIMI

Abstract

Spinal müsküler atrofi özellikle bebeklik döneminde spinal motor nöronlarını etkileyerek kas zayıflığına sebep olan önemli genetik geçişli bir hastalıktır. Spinal müsküler atrofi erken bebek ölümlerinin en yaygın sebeplerinden olan survival motor nöron geninin delesyonu ile ortaya çıkmaktadır. Dünyada ve Türkiye’de spinal müsküler atrofi hastalığının tedavisi için bazı ilaçlar kullanılmasına rağmen henüz tam iyileşme sağlayan bir tedavi yöntemi bulunmamaktadır. Spinal müsküler atrofide tedavi imkânlarının kısıtlı olması, erişilebilirliğinin az olması, hastalığın kötü bir prognoza sahip olması, bireylerin ve ailelerinin yaşam kalitelerini olumsuz yönde etkilemektedir. Tanı sürecinden itibaren hastalığın tüm aşamaları hasta ve ailesi için oldukça zordur. Hasta ve ailesinin bu zorluklarla başa çıkmak için multidisipliner bir yaklaşım gerekmektedir. Bu yaklaşım, tıbbi bakım, rehabilitasyon, psikososyal destek ve eğitim gibi alanları kapsamaktadır. Sağlık bakım ekibinin önemli bir üyesi olan hemşirelerin bu süreçte, hastanın yaşam kalitesini artırması, semptomları yönetmesi, birey ve ailesine destek sağlaması son derece önemlidir. Özellikle hasta ve ailenin bakım konusunda desteklenmesi ve bakım gereksinimi konusunda eğitilmeleri hemşirelerin en önemli rolleri arasında yer almaktadır. Bu derleme ile dünyada ve Türkiye’de güncel bir sorun olan spinal müsküler atrofi hastalığının tanı yöntemleri, tedavi süreci ve hemşirelik yaklaşımları ele alınmaya çalışılmıştır.

Keywords

• Spinal Müsküler Atrofi
• Genetik Hastalıklar
• Hemşirelik Bakımı

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