What allele causes Duchenne muscular dystrophy?

What allele causes Duchenne muscular dystrophy?

Duchenne muscular dystrophy is inherited in an X-linked recessive pattern. Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy.

Which of the following disease is a good example of allelic heterogeneity?

These genes display allelic heterogeneity at their loci and are responsible for distinct disease phenotypes. Some of these diseases include alkaptonuria, albinism, achondroplasia, and phenylketonuria. For example, β-thalassemia may be caused by several different mutations in the β-globin gene.

Is BMD an allelic variant of DMD?

BMD (MIM#300376) is a milder allelic form with a later onset and slower progression, with variable degrees of disease severity ranging from a more severe DMD-like presentation to an almost asymptomatic status maintained until the fifth or sixth decade of life.

What is the abnormal protein in Duchenne muscular dystrophy?

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact.

When do the first symptoms of Duchenne muscular dystrophy appear?

Duchenne Muscular Dystrophy It usually starts when a child is between ages 2 and 5. Symptoms of Duchenne muscular dystrophy include: Muscle weakness that begins in the hips, pelvis, and legs. Difficulty standing.

Who is most likely to get muscular dystrophy?

Muscular dystrophy occurs in both sexes and in all ages and races. However, the most common variety, Duchenne, usually occurs in young boys. People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.

Is cystic fibrosis locus heterogeneity?

Allelic heterogeneity describes the ability of different mutations within the same gene to cause the same disease (B). Cystic fibrosis is used to demonstrate this form of heterogeneity, with as many as 1,500 CFTR mutations being attributed to causing the disorder (O’Sullivan and Freedman, 2009).

What does heterogeneous disorder mean?

A heterogeneous medical condition or heterogeneous disease is a medical term referring to a medical condition with several etiologies (root causes), such as hepatitis or diabetes.

What are the major differences between BMD and DMD?

Condition: Duchenne muscular dystrophy (DMD) is a genetic disease that causes progressive muscle weakness and damage. Becker muscular dystrophy (BMD) is the less severe, and less common, form of the disease. Background: Signs of DMD generally appear before age six; BMD usually appears after eight years of age.

Why are calves enlarged in Duchenne muscular dystrophy?

It is also common for boys with DMD to have enlarged calves. This is due to scar tissue build-up in muscles, and muscle tissue being replaced by fat and connective tissue. Once boys with DMD do begin to walk, their movements may seem awkward. And they may walk on their toes or have a waddle-like gait.

Who is most likely to get Duchenne muscular dystrophy?

Affected Populations DMD is the most common childhood onset form of muscular dystrophy and affects males almost exclusively. The birth prevalence is estimated to be 1 in every 3,500 live male births. Age of onset is usually between 3 and 5 years of age.