P171 – 3054: Difficulties in diagnosis of myotonic patients

• Published in: European journal of paediatric neurology Vol. 19; pp. S141 - S142
• Main Authors: Baydan, F, Sarioglu, B, Dündar, N.O
• Format: Journal Article
• Language: English
• Published: Elsevier Ltd 01-05-2015
• Subjects: Neurology; Pediatrics
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/S1090-3798(15)30484-0

Objective Pediatric patients with myotonia are referred to medical centers with complaints of difficulty in walking, standing up, climbing the stairs and usually are mistaken in differential dianosis of myopathy. Myotonic findings in physical examination is often overlooked and hypertrophy of gastrocnemius muscles and elevation in creatinin kinase values are confusing. Methods Ages of the patients referred to our muscle center were 3.5 ve 17 years. The time elapsed during the diagnosis ranged 1.5 to 10 years. 3 patietns were female and 5 were male. Five patients with the diagnosis of myotonia congenita had myotonic phenomena in electromyography (EMG) in the first examination, in one patient myopathic EMG pattern was seen and myotonic findings were found after one year. Myopathic motor unit potentials was found in one patient with myotonic dystrophy. Myopatic pattern was seen in one patient with paramyotonia congenita and a muscle biopsy was done. Results Six patients were followed with the diagnosis of Myotonia Congenita Becker Type, one patient Paramtyotonia Congenita and one patient myotonic dystrophy. Conclusion Thse patients were refererred to many medical centers and were followed with diagnosis of myopathy instead of myotonia. The purpose of this review is to signify attention to myotonic findins in physical examination and medical history.