Mitokondrial miyopati ile seyreden SANDO sendromunda rehabilitasyon

Yıl 2020, Cilt: 13 Sayı: 1, 215 - 218, 21.01.2020

Alev Atıgan Füsun Şahin

https://doi.org/10.31362/patd.570009

Öz

 

Mitokondrial
miyopatiler, mitokondrial DNA (mtDNA) mutasyonu sonucu oksidatif
fosforilasyonun bozulduğu ve dolayısıyla multisistemik semptom ve bulguların
görüldüğü hastalık grubudur. Bu hastaların rehabilitasyonunda uygulanması
gereken egzersiz şiddeti yeni çalışılan bir konu olup halen netliğe
kavuşturulamamıştır. Bu olgu sunumunda yürüme güçlüğü ve kas güçsüzlüğü ile
kliniğimize başvuran, mitekondrial miyopatilerin bir grubu olan SANDO sendromu
tanısı mevcut olan bir bayan hasta eşliğinde mitokondrial miyopatilerde
rehabilitasyon özellikleri tartışılacaktır. 

Anahtar Kelimeler

SANDO sendromu, mitokondrial miyopati, egzersiz

Rehabilitation of SANDO syndrome with mitochondrial myopathy

Öz

 

Mitochondrial
myopathies are a group of diseases where oxidative phosphorylation is impaired
as a result of mitochondrial DNA (mtDNA) mutation and thus multisystemic symptoms
and findings are seen. The exercise intensity of these patients can not be
clarified. In this case report, the rehabilitation features of mitochondrial
myopathies will be discussed by presented a female patient who has walking
difficulty and muscle weakness with the diagnosis of SANDO syndrome which is a
group of mitochondrial myopathies.

Anahtar Kelimeler

SANDO syndrome, mitochondrial myopathies, exercise

Kaynakça

• 1. Anziska Y, Inan S. Exercise in Neuromuscular Disease. Semin Neurol. 2014;34:542–556.
• 2. Kawai H, Akaike M, Yokoi K, Tamaki Y, Saito S. Mitochondrial myopathy with autosomal dominant inheritance-report of a family and review of the literature. Rinsho Shinkeigaku. 1993;332:162-168.
• 3. Koopman WJH, Willems PHGM, Smeitink JAM. Monogenic mitochondrial disorders. N Engl J Med. 2012;366:1132-1141.
• 4.Corrado Angelini. SANDO (Sensory ataxic neuropathy, Dhysarthria, Ophtalmopharesis) Genetic Neuromuscular Disorders. 2014:259-260.
• 5. Batur G, Ayhan FF, Alioğlu B, Okumuş M, Borman P. Pearson Sendromlu Bir Olguda Mitokondrial Miyopati Rehabilitasyonu. Turk Fiz Tıp Rehab Derg 2011,Ozel Sayı;341-4.
• 6. Chinnery PF.Mitochondrial Disorders Overview. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, eds. Seattle;1993-2019.
• 7. Taivassalo T, De Stefano N, Argov Z, Matthews PM, Chen J, Genge A, Karpati G, Arnold DL. Effects of aerobic training in patients with mitochondrial myopathies. Neurology. 1998;50:1055-1060.
• 8. Siciliano G, Manca ML, Renna M, Prontera C, Mercuri A, Murri L. Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies. Neuromuscul Disord. 2000;10:40-45.
• 9. Haller RG, Lewis SF, Cook JD, Blomqvist CG. Myophosphorylase deficiency impairs muscle oxidative metabolism. Ann Neurol. 1985;17:196-199.
• 10. Lindholm H, Löfberg M, Somer H, Näveri H, Sovijärvi A. Abnormal blood lactate accumulation after exercise in patients with multiple mitochondrial DNA deletions and minor muscular symptoms. Clin Physiol Funct Imaging. 2004;24:109-115.
• 11. Tarnopolsky M. Exercise testing as a diagnostic entity in mitochondrial myopathies. Mitochondrion. 2004;4:529-542.
• 12. Trenell MI, Sue CM, Kemp GJ, Sachinwalla T, Thompson CH. Aerobic exercise and muscle metabolism in patients with mitochondrial myopathy. Muscle Nerve. 2006;33:524-531.
• 13. Hood DA. Invited review: contractile activity-induced mitochondrial biogenesis in skeletal muscle. J Appl Physiol. 2001;90:1137-1157.
• 14. Mark A. Tarnopolsky. Exercise as a Therapeutic Strategy for Primary Mitochondrial Cytopathies. Journal of Child Neurology. 2014;29:1225-1234.
• 15. Taivassalo T, De Stefano N, Chen J, Karpati G, Arnold D L, Argov Z. Short-term aerobic training response in chronic myopathies. Muscle nerve. 1999;22:1239-1243.
• 16. Jeppesen TD, Schwartz M, Olsen DB, et al. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain. 2006;129:3402-3412.
• 17. Taivassalo T, Matthews PM, De Stefano N, et al. Combined aerobic training and dichloroacetate improve exercise capacity and indices of aerobic metabolism in muscle cytochrome oxidase deficiency. Neurology. 1996;47:529-534.
• 18. Bodur H. Miyopati rehabilitasyonu. In: Oğuz H, Dursun E, Dursun N, ed. Tıbbi rehabilitasyon. 2.baskı, İstanbul: Nobel Matbaacılık 2004:695-710.