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Abstract

INTRODUCTION:Duchenne muscular dystrophy (DMD) is a rare muscular disorder, affecting 1 in 3500 live born males. It is characterized by weakness and wasting(atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles and less well described non progressive central nervous system manifestations.Uncommonly associated neuropsychiatric elements include intellectual disability, attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders and emotional behavioural problems - internalizing and externalizing (oppositional/aggressive) behaviours.CASE SUMMARY:Diagnosed with DMD using molecular testing revealing hemizygous deletion of exon 52 in DMD gene in 2019, an 11 year old male child born out of non-consanguineous marriage presented with ℅ delayed developmental milestones, difficulty in sitting, walking and holding things, temper tantrums, poor scholastic performance, frequently losing interest in activities, irritability, picking up quarrels with peers, parents and assaulting them, self harm behaviour and breaking household items.H/o absence seizures in the mother since 14 years of age, multiple episodes during the antenatal period and intellectual disability in the maternal aunt.Psychological assessment revealed IQ=44A diagnosis of ID, ADHD and ODD was made in the patient based on detailed patient history, thorough clinical evaluation and psychological assessment.Patient was started on T. Atomoxetine 5 mg for his neuropsychiatric symptoms resulting in partial improvement.DISCUSSION:Dystrophin and its isoforms influence brain development and function.A proportion of DMD patients also experience behavioral and cognitive impairment.