Steinert's myotonic dystrophy: a case report

Case presentation: 9-year-old female, born at term by vaginal delivery without complications. Referred to the neurologist due learning difficulties and gait imbalance. She was with mild hypotonia, presenting difficulty in breastfeeding, but did not need any ventilatory support. diagnosed congenital clubfoot which successfully treated until age of 2 years 4 months. Extended screening for inborn errors metabolism karyotype show abnormalities. Brain MRI showed hypoxia. Regarding developmental milestones, she walked spoke her first words 1 year 6 have family history neurological disorders. However, mother has cognitive impairment. On physical examination, he able understand respond all requests presented rhinophonia, mandibular bilateral symmetrical palpebral ptosis, hyporeflexia limbs, diffuse muscular hypotonia strength grade distal 5 proximal upper limbs foot drop bilaterally extension right left feet respectively, rest lower limb muscles, fasciculations. Also, flexor plantar reflex, a myotonic phenomenon thenar region percussion, scrambling gait. The had eyelid frontal baldness, clear on percussion when closing eyes. Molecular genetic testing requested dystrophy type (DM1), DMPK gene expansion, positive.