Bosphorus Med J. 2022; 9(4): 272-275 | DOI: 10.14744/bmj.2022.52244

Konjenital Miyotoni: Becker Varyantý Olgu Sunumu

Okan Akþahin, Mehmet Güney Þenol
Sultan Abdülhamit Han Eðitim Araþtýrma Hastanesi Nöroloji Kliniði, Ýstanbul, Türkiye

Miyotoni, kas hiperekstabilitesinin neden olduðu ve gecikmiþ relaksasyon sonucunda ortaya çýkan bir bulgudur. Miyotoninin görüldüðü iki hastalýk grubu, musküler distrofilerden miyotonik distrofi ve kas iyon kanalý hastalýklarýndan nondistrofik miyotonilerdir. Konjenital miyotoni; yaygýn kas hipertrofisi, ilerleyici olmayan miyotoni, ani kas kasýlmasý sonrasý gevþemekte güçlük ile karakterize, iskelet kasýnýn nadir görülen kalýtsal bir hastalýðýdýr. Burada 59 yaþýnda, son bir yýldýr bacaklarda artan kas güçsüzlüðü, aðrý ve kas sertliði nedeniyle beyin cerrahisi kliniðine baþvuran, lomber spinal stenoz (L2-3-4) teþhisi koyularak operasyon planlanan ve cerrahi öncesi tarafýmýza yönlendirilen, yapýlan klinik deðerlendirme ve elektromiyografi sonucunda konjenital miyotoni tanýsý alan bir olgu sunuldu. Konjenital miyotoni bazý hastalarda subklinik seyredebilir ve eþlik eden semptomatik spinal kord patolojisi varlýðýnda tanýnmasý güç olabilir. Taný koyulduðunda perioperatif kompikasyonlarýn önlenmesi açýsýndan cerrahi öncesi anestezistlerin bilgilendirilmesi çok önemlidir.

Anahtar Kelimeler: Becker hastalýðý, Konjenital miyotoni, miyotonik hastalýklar.

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Myotonia Congenita: Case Report of Becker’s Variant

Okan Akþahin, Mehmet Güney Þenol
Sultan Abdulhamit Han Training and Research Hospital Neurology Clinic, Istanbul, Türkiye

Myotonia is a finding caused by muscle hyperexcitability and occurs as a result of delayed relaxation. The two disease groups in which myotonia is seen are myotonic dystrophy from muscular dystrophies and non-dystrophic myotonias from muscle ion channel diseases. Congenital myotonia is a rare inherited disease of skeletal muscle characterized by diffuse muscle hypertrophy, non-progressive myotonia, and difficulty in relaxation after sudden muscle contraction. In this article, we present a 59-year-old patient, who applied to the neurosurgery clinic due to increased muscle weakness, pain, and muscle stiffness in the legs for the past 1 year, was diagnosed with spinal stenosis and was referred to us before surgery and was diagnosed with myotonia congenita as a result of clinical evaluation and EMG. Congenital myotonia may have a subclinical course in some patients and may be difficult to diagnose in the presence of concomitant symptomatic spinal cord pathology. It is very important to inform anesthesiologists before surgery to prevent perioperative complications when the diagnosis is made.

Keywords: Becker’s disease, myotonia congenita, myotonic disorders.

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