INTRODUCTION: We present a suspected case of Myotonic Dystrophy (DM) or Steinert's disease, with characteristic clinical, electrophysiological and histopathological features. This disease has a prevalence of five per one hundred thousand in Europe and one in eight thousand in the U.S. In the Philippines no reliable data on prevalence is available. Locally there has been only one report by Potenciano et al in 1993.
CLINICAL PRESENTATION: We report a case of DM in a 22 year-old male with a four year history of progressive weakness, wasting of distal limb and face muscles, frontal baldness, bilateral ptosis, dysphagia and dysarthria. At the age of 18 he started to have difficulty opening and closing his hands. His pedigree was reviewed and 26/53 family members were examined, revealing nine paternally-related similarly symptomatic individuals. Associated findings were somnolence, difficulty in pregnancies, stillbirth and spontaneous abortions.
DIAGNOSTIC WORK-UP: Total CPK levels were normal in the proband and EMG studies revealed classic myotonic discharges. The open biceps muscle biopsy showed mild variation in muscle fiber size with few small polygonal fibers and 6 percent of fibers containing internal nuclei. Further confirmation of this disease by genetic testing is pending. Treatment and Follow-up: The proband was started on phenytoin, rehabilitation and psychotherapy. The other members of the family are still being evaluated. (Author)