MUSCULAR DYSTROPHY

By Jasmine DeLong

INHERITANCE

• Muscular dystrophy is a hereditary condition marked by progressive weakening and wasting of the muscles.

• The change in the gene that causes muscular dystrophy happens with the X chromosome. A male receives an X chromosome from his mom and a Y chromosome from his dad. The X chromosome may have the changed gene that can cause muscular dystrophy.

• Females almost never have muscular dystrophy because they receive two X chromosomes. Even if a female has one X chromosome containing the muscular dystrophy gene, her second X chromosome usually will make enough dystrophin to keep her muscles strong.

• Because a female can carry one muscular dystrophy mutation and not be affected, she is referred to as a carrier. Being a carrier, a female does have a risk of passing the same mutation on to her children.

• Each son born to a carrier female has a 50% chance of inheriting the muscular dystrophy mutation and having the disease. Each daughter born to a carrier female instead has a 50% chance of inheriting the DBMD mutation and becoming a carrier like her mother.

• Although most males diagnosed with this condition are known to have received the mutation from their mothers, about one-third of cases are the result of a new mutation in which the mother is not a carrier. Rather, the new mutation happened randomly in the fertilized egg. In these cases, it is unlikely that other children of that same couple will be affected similarly by muscular dystrophy.

SYMPTOMS

• Signs usually appear between ages 2 and 3 and may include:

• Weakness in muscles

• Frequent falls.

• Difficulty getting up from a lying or sitting position.

• Trouble running and jumping.

• Waddling gait.

• Walking on the toes.

• Large calf muscles.

• Muscle pain and stiffness.

• Learning disabilities.

TREATMENT

• There is no definite treatment or cure for any type of muscular dystrophy.

• However, a treatment has been performed where Stem Cells (cellular building blocks) are administered intravenously and subcutaneously (under the skin) in Muscular Dystrophy patients.

• The entire procedure takes approximately one hour and has no known negative side effects.

• Medications and therapy can slow the course of the disease.

• Human trials of gene therapy with the dystrophin gene are on the near horizon.

LIFE EXPECTANCY

• Muscular dystrophy does decrease ones life expectancy.

• Depending on what type of muscular dystrophy the person has affects the length of their life span.

• Certain types of muscular dystrophy such as Distal Muscular Dystrophy does not affect a persons life span at all.