İlknur ALBAYRAK, Sami KÜÇÜKŞEN, Sema KARAKAŞLI, Sinan BAĞÇACI, Ali SALLI

The association of myotonia congenita and ankylosing spondylitis

Bu vaka ankilozan spondilit ve myotoni konjenitanın birlikte görüldüğü ilk sunumdur. Ankilozan spondilit aksiyal iskelet infla- masyonu ve sistemik tutulumla karekterize sistemik romatolojik bir hastalıktır. Miyotoninin en belirgin bulgusu tutukluk ve kas kasıldıktan sonra gevşeme gecikmesidir. Tutukluk ve tanı gecikmesi bu iki hastalıkta ortak bulgudur.

Ankilozan spondilit ve myotoni konjennita ilişkisi

This is the first report about the association of ankylosing spondylitis and myotonia congenita. Ankylosing spondylitis is a systemic rheumatologic disease that is characterized by axial skeletal inflammation and accompanied by systemic involvement. The most significant findings of myotonia are the stiffness and the delayed relaxation following the muscle contraction. Both of these pa- thologies can cause stiffness and also delaying of diagnosis of each other.

PDF

___

1. Calabro JJ, Dick WC. Ankylosing spondylitis. Lancaster: MTP Press; 1987.
2.Becker PE. Syndromes associated with myotonia:clinical and genetic classsification. In: Rowland LP, ed. Pathogenesis of human muscular dystrophies, New York: Excerpta Medica 1977: 699-703.
3.Streib EW. AAEE minimonograph ≠ 27: differential diagno- sis of myotonic syndromes. Muscle Nerve 1987;10: 603-15.
4.Whitfield AGW. Neurological complications of ankylosing spondylitis. In: Vinken PJ, Bruyn PW, eds. Handbook of clinical neurology.Vol. 38, Amsterdam: Elsevier, North Holland Biochemical Press,1979:505-20.
5.Van der Linden S, Valkenburg HA. Evaluations of diag- nostic criteria for ankylosing spondylitis: a proposal for medication of the New York criteria. Arthritis 1984; 27: 361-8.
6.Khan MA. Update on spondyloarthropathies. Ann Intern Med 2002;136: 896-907.
7.Koch MC, Steinmeyer K, Lorenz C. The skeletal muscle chloride channel in dominant and recessive human myo- tonia. Science 1992;257:797-800.
8.Zhang J, George A, Griggs RC. Mutations in the skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 1996;47:993-8.
9.Torbergsen T, Hodnebo A, Brautaset N J, Loseth S, Stalberg E. A rare form of painful nondystrophic myotonia. Clinical Neurophsiology 2003;114:2347-54.
10.Conravey A, Santana-Gould L. Myotonia Congenita and Myotonic Dystrophy: Surveillance and Management. Current Treatment Options in Neurology 2010;12:16-2