IllnessMuscular dystrophy Duchenne/Becker

NGS +

Sanger

Duchenne and Becker muscular dystrophy are two related diseases that mainly affect the skeletal and heart muscles. Both forms of dystrophinopathies show similar symptoms, they are caused by different mutations in the same gene. The two disorders differ in their severity, age at onset and rate of progression. In boys with Duchenne muscular dystrophy (DMD), muscle weakness usually appears in early childhood and worsens rapidly. These patients are usually confined to a wheelchair by adolescence. The symptoms of Becker muscular dystrophy (BMD) are usually milder and more varied. In most cases, muscle weakness becomes apparent later in childhood or adolescence and worsens much more slowly. DMD and BMD are associated with cardiomyopathy that begins in adolescence and progresses eventually to dilated cardiomyopathy. The heart problems can worsen rapidly and often become life-threatening. Today, DMD patients usually live into their 3rd decade, while BMD patients live well into their forties and in some cases become far older. Mutations in the DMD gene lead to DMD and BMD. Deletions of single or multiple exons of the gene can be detected in ~50-70% of the DMD/BMD cases, preferably occurring in the region of exons 3-19 (~30% of deletions) and exons 44-52 (~70% of deletions). Less frequently duplications of larger gene segments are found (~5-20% of patients). Point mutations occur in 20-35% of affected males. DMD and BMD are inherited in an X-linked recessive manner. The molecular genetic diagnostic yield reaches 99%. In rare cases, the mutation remains undetected even after most extensive efforts.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1119/v/books/NBK1119/

• Alias: Duchenne [+ Becker] muscular dystrophy - DMD (DMD)
• Alias: Morbus Duchenne/Becker (DMD)
• Alias: Severe dystrophinopathy, Duchenne + Becker type (DMD)
• Allelic: Becker muscular dystrophy, BMD (DMD)
• Allelic: Cardiomyopathy, dilated, 3B (DMD)
• Duchenne muscular dystrophy, DMD (DMD)