Duchenne Muscular Dystrophy : Case Reports of Siblings

DOI:

Bhuiyan Md. M1 , Rafique A.T.M.2 , Mohammad M S3

Abstract

Muscular dystrophy weakens the muscles that helpthe body move. People with muscular dystrophyhave incorrect or missing information in theirgenes, which prevents them from making theproteins they need for healthy muscles. Becausemuscular dystrophy is genetic, people are bomwith the problem - it's not contagious and cangradually lose the ability to do the things mostpeople take for granted, like walking or sitting up.Someone with muscular dystrophy might starthaving muscle problems as a baby or theirsymptoms might start later. Some people evendevelop muscular dystrophy as adults]. DuchenneMuscular Dystrophy is named after the Frenchneurologist Guillaume Benjamin Amand Duchennewho, in the 1861 described and detailed the case ofa boy who had this condition!. In 1868 he gave anaccount of 13 other affected children. Duchennewas the first who did a biopsy to obtain tissue froma living patient for microscopic examination.Duchenne muscular dystrophy (DMD), the mostcommon type of the disease, is caused by a problemwith the gene that makes a protein calleddystrophin. This protein helps muscle cells keeptheir shape and strength. Without it, muscles breakdown and a person gradually becomes weaker.DMD affects boys. Symptoms usually start between ages 2 and 6. By age 10 or 12, kids with DMDoften need to use a wheelchair. The heart may alsobe affected, and people with DMD need to befollowed closely by a lung and heart specialist.They can also develop scoliosis (curvature of thespine) and tightness in their joints. Over time, eventhe muscles that control breathing get weaker, and aperson might need a ventilator to breathe.

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  1. Professor, Department of Paediatrics

    Holy Family Red Crescent Medical College, Dhaka

  2. Registrar, Department of Paediatrics

    Holy Family Red Crescent Medical College, Dhaka

  3. Associate Professor, Department of Paediatrics

    Holy Family Red Crescent Medical College, Dhaka


Volume 20, Number 1 January 2013
Page: 55-58