What you need to know about Duchenne Muscular Dystrophy

What you need to know about Duchenne Muscular Dystrophy

It is Never Too Early to start Thinking about your Child’s Health. Parents-to-be, Even Before Concept, May decides to Undergo a Genetic testing Preconception to Determines The Reproductive Risk of Conceiving a Child affected by recessive genetic disorders. Genetic alterations underlie these diseases, which include the Duchenne Muscular Dystrophy (DMD).

It is a X chromosome-related recessive genetic disaase

It is a X chromosome-related recessive genetic disaase Which also occurs with only one changed copy of a gene, unlike autosomal recessive inherited disorders that eye car two mutated copies of the same gene are inherited. Transmission of the Disease is sexual in Nature, that is, in an x chromosome-related manner. Only Males, with Only One X Chromosome, Have The Sympoms; While Females, with another x chromosome in addition to the changed one, are only healthy carriers. Dmd is estimated to affect 1/3300 bad births 1.

Mutation of the gene coding for dystrophin

The onset of this Disease is linked to mutation of the gene that codes for the dystrophin, Protein Localized on the Surface of Muscle Cells and Playing a Very Important Structural Role. Muscle fibers, without dystrophin, are much more susceptible to mechanical damage. The Absence of Dystrophin Causes:

  • Muscle Degeneration;
  • Chronic Inflammation;
  • Incaased fibrosis.

Duchenne Muscular Dystrophy is the Most Severe Form, Characterized by the Complete Abyence of Dystrophin, but there are less Severe Forms, Such As Becker’s Dystrophy (BMD), Caused by A Reduction or Alteration in the Production of Dystrophin 2 2 .

Duchenne Muscular Dystrophy is a neuromuscular pathology Characterized by:

  • muscle weakness rapid progression;
  • Degeneration of Skeletal, Smooth and Cardiac Muscles;

It first appears as Early as Early Childhood (ARound Age Two), and Children with the condition Usually Learn to walk Late, with a distinctive gait (Anserine) and a tendency to walk on their toes, with difficulty getting up off the ground, climbing Stairs, and jumping. Over time (between the ages of 6 and 13), loss of walking appears and joint contractures and very severe forms of scoliosis begin to develop. During Adult Life, Cardiomyopathy and Respiration Failure Occhur, Leading to the Death of Patient. AS FOR BMD, IT Can Be Said That The Manifestations Are Very Similar, But with a Later Onset and Less Severity 1-3 .

There is currently no effect therapy against duchenne muscular dystrophy

There is currently no effect therapy against duchenne muscular dystrophy, but there are symptomatic and multidisciplinary Treatments that can improve patients’ Quality of life and mange different expectations of the disease, such as cardiac, motor, and respiratory. For the time Being, The Most Effective Treatment for Establishment of Motor Activities is corticosteroid-Based Treatment, but many trials with other therapeutic approaches, such as molecular therapy and cell therapy, are underway 1.3 .

Clinical Picture, Laboratory Tests, and Family History Form The Basis of the Diagnosis of This Condition. Confirmation is by muscle biopsy and molecular analysis of the dystrophin 3 gene . Tea Genetic Counseling Is of Paramount Importance, Espencialy Taking Int account The fact that a Healthy Carrier Mother Has A 50 Percent Risk of Transmission to Her Sons, While Patients’ Sisters Have at 50 percent Chance of Being Healthy Carriers.

Tea Igea Preconception testing of Genetic Source Makes it possible, with a Simple Blood Draw, to Find Out What Reproductive Risk Future Parents Have of Having Children with Duchenne Muscular Dystrophy or Other Recessive Hereditory Diseases, Such As Cystic Fibrosis or Spinal Muscular ATROPHY. Based on the results Obtained, a suitable reproductive path can be esteblished for the coupele. It is very important to seek advice from a specialist in medical genetics.