Özlem ÖZDEMİR, Arzu EKİCİ, Hamide MELEK, Cansu KARA, Aynur KÜÇÜKONGAR

YÜRÜYEMEYEN ON DOKUZ AYLIK BİR HASTADA DÜŞÜNÜLMESİ GEREKEN BİR TANI: SMA TİP II

Spinal muskuler atrofi (SMA) proksimal kasları tutan, ilerleyici güçsüzlük ve kas atrofisi ile giden nö- romuskuler bir hastalıktır. Spinal muskuler atrofi Tip I kolaylıkla tanı konulabilirken, SMA Tip II ve III gözden kaçabilmektedir. SMA Tip II 7-18 aylık dönemde başlar ve daha yavaş seyirlidir. Beşinci kro- mozomun uzun kolundaki SMN (survival motor neuron) genindeki delesyondan kaynaklanmaktadır. Bu çocuklar genellikle yürüme güçlüğü ile başvururlar. Tedavisi henüz mümkün olmayan bu hasta- lıkta amaç hastaların yaşam kalitesini arttırmaktır. Ailelere prenatal genetik danışmanlık sağlamak önemlidir. Bu yazıda SMA Tip II tanısı konulan on dokuz aylık olgu sunularak, yürüyememe şikayeti ile getirilen hastalarda SMA Tip IInin akılda tutulması gerektiği vurgulanmak istendi.

A Diagnosis Which Should Be Considered in a Nineteen Month-old Patient Who Could Not Walk : SMA Type II

Spinal muscular atrophy (SMA) is a neuromuscular disease ,which holding the proximal muscles, and leading to progressive weakness and muscle atrophy. Spinal muscular atrophy Type I can easily be diagnosed, but SMA type II and III can be easily missed. Spinal muscular atrophy Type II begins at 7-18 month period and progresses more slowly. It was due to deletion of the long arm of the fifth chromosome SMN (survival motor neuron) gene. These children often present with inability to walk. Treatment of this disease is not yet possible and it is purposed to improve the quality of the patients life. It is important to ensure prenatal genetic counseling to the families. In this article we presented a nineteen month-old patient with SMA Type II, and wanted to emphasize that SMA Type II should be kept in mind at patients who was admitted with inability to walk.

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1. Talbot K. Progressive Spinal Musculer Atrophy. J Inher Metab Dis. 1999;22(4):545-54.
2. Strober JB, Tennekoon GI. Progressive Musculer Atrophies. J Child Neurol. 1999;14(11):691-5.
3. Kroksmark AK, Beckung E, Tiulinius M. Muscle strenght and motor function in children and adolescents with spinal muscular atrophy II and III. European J Pediatr Neurol. 2001; 5(5): 191-8.
4. McDonald CM. Neuromuscular diseases. In: Molnar GE; Alexander MA. eds. Pediatric Rehabilitation, Philadelphia, Hanley&Belfus, 1999;39(5):419-20.
5. Talbot K, Davies KE. Spinal muscular atrophy. Semin Neurol. 2001;21(2):189-97.
6. Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H. Treatment of spinal muscular atrophy by sodium butyrate. Natl Acad Sci USA. 2001;14-98(17):9808-13.
7. Takeuchi Y, Miyanomae Y, Komatsu H, et al. Efficacy of thytotropin releasing hormone in the treatment of spinal muscular atrophy. J Child Neurol. 1994;9(3):287-9.
8. Cunha MC, Oliveira AS, Labronici RH, Gabbai AA. Spinal muuscular atrophy II and III. Evaluation of 150 patients with physiotherapy and hydrotherapy in a swimming pool. Arq Neuropsiquatr. 1996; 54(3):402-6.
9. Raymond FL. Spinal muscular atrophy of childhood:genetics. Dev Med Child Neurol. 1997;39(6):419- 20.