DUCHENNE MUSKÜLER DİSTROFİ TAŞIYICI KADINLARDA GÖRÜLEN SEMPTOMLAR: GELENEKSEL DERLEME

Duchenne Musküler Distrofi (DMD); nöromüsküler hastalıklar arasında en yaygın görülen, distrofin proteini eksikliğinden kaynaklanan X’e bağlı resesif geçişli genetik hastalıktır. Hastalıkta iskelet kası ve kardiyopulmoner tutulumun yanı sıra kognitif tutulum da eşlik edebilir. Etkilenen erkek bireylerin üçte biri mutasyon sonucu oluşurken, üçte ikisi ise annelerinden genetik geçiş ile olduğu düşünülmektedir. Taşıyıcı kadınlar, Becker Musküler Distrofi benzeri hafif seyirli bulgulardan DMD’li bireylerde görülen şiddetli semptomlara varan farklı klinik tabloya sahip olabilirler. İlk belirti gösterme yaşları 2 ila 47 yaş arasında değişmektedir. Taşıyıcı kadınlarda da etkilenmiş erkek bireyde görülen kas gücü ve işlevsellik kaybı, kramp, ağrı, kardiyomiyopati, bilişsel disfonksiyon, hafıza ve dikkat bozukluğu gibi semptomlar görülebilmektedir. Hamilelik, doğum, anestezi gibi majör olaylar ile de semptomların şiddeti artmaktadır. DMD kronik ve progresif bir hastalıktır. Bu hastalığa sahip bireylerin bakımını genellikle anneleri üstlenmektedir. DMD’li bireyin bakımından sorumlu taşıyıcı bireyin üzerindeki bakım yükü; hastalığın ilerlemesi, fiziksel ve fonksiyonel kayıpların artmasıyla daha da artar. Bu durum da taşıyıcı birey üzerindeki fiziksel, duygusal, psikolojik vb. yükü artırarak taşıyıcı semptomlarının şiddetinin artmasına sebep olur. Bu yüzden DMD’li birey ile kalıtımsal bağı olan kişiler genetik danışmanlık almaya yönlendirilmeli ve DMD’li bireylerin tedavisi planlanırken bireysel tedavi programına ek olarak genetik danışmanlık sonucunda taşıyıcı olan bireylerin de tedavi programına dahil edildiği aile temelli tedavi yaklaşımı uygulanmalıdır.

Anahtar Kelimeler:

Duchenne müsküler distrofi, distrofin, kadın, bakıcı yükü

SYMPTOMS OF DUCHENNE MUSCULAR DYSTROPHY IN CARRIER WOMEN: A TRADITIONAL REVIEW

Duchenne Muscular Dystrophy (DMD); The most common neuromuscular disease is an X-linked recessive genetic disease caused by a deficiency of the dystrophin protein. In addition to skeletal muscle and cardiopulmonary involvement, cognitive involvement may accompany the disease. One-third of affected males are caused by mutation, while two-thirds are thought to be inherited from their mothers. Carrier women may have a different clinical picture, ranging from mild signs like Becker Muscular Dystrophy to severe symptoms seen in individuals with DMD. The age at first symptom onset ranges from 2 to 47 years. Symptoms such as loss of muscle strength and functionality, cramps, pain, cardiomyopathy, cognitive dysfunction, memory and attention disorders can be seen in carrier women as well as in affected males. The severity of symptoms increases with major events such as pregnancy, childbirth and anesthesia. DMD is a chronic and progressive disease. The care of individuals with this disease is usually undertaken by their mothers. The burden of care on the carrier responsible for the care of the individual with DMD; The progression of the disease increases with the increase of physical and functional losses. In this case, the physical, emotional, psychological etc. on the carrier individual. Increases the burden, causing an increase in the severity of carrier symptoms. Therefore, people with hereditary ties to the individual with DMD should be directed to receive genetic counseling, and when planning the treatment of individuals with DMD, a family-based treatment approach should be applied in which individuals who are carriers as a result of genetic counseling are included in the treatment program in addition to the individual treatment program.

Keywords:

Duchenne muscular dystrophy, dystrophin, female, caregiver burden,

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