A group of diseases that causes progressive weakness and loss of muscle mass. Mutations interfere with the production of proteins needed to form healthy muscle.
Biological Development
-Present at birth or early infancy
-Inherited in autosomal recessive nature
-Incorrect or missing genetic information needed to create proteins that build and maintain healthy muscle
> 1 in 100,000 people are affected
> Males and females are equally likely to get it
> Upper arms, upper legs, neck, and lungs show weakness first but spine and heart can also be affected
> Some people with this disability experience seizures
Lack of muscle mass
Many develop large calf muscles due to muscle tissue being destroyed and replaced by fat
Sometimes referred to as “floppy baby” (because of diminished muscle tone aka hypotonia)
Abnormally fixed joints
Spinal rigidity
Delays in reaching motor milestones (sitting/standing unassisted)
Makes it hard to walk
Can't stand up from sitting position
Have difficulty going upstairs
Have a hard time pushing things
Feeding difficulties or respiratory complications can occur
Learning Disabilities/ Cognitive Issues
Mental delays are possible
Low verbal skills
Intellectual Disabilities
Slight deficit in attention, short term working memory, and problem solving
Social/ Emotional Development
Anxiety
Depression
These things can occur due to the affected not being able to participate in the various social activities people without congenital muscular dystrophy can participate in.
-Medications to relieve symptoms
-Physical therapy for muscle weakness
-Occupational therapy for swallowing issues
-Respiratory therapy for breathing issues
-Behavioral therapy to address cognitive function
Therapeutic play is used to help meet the emotional needs of children who have an illness, disability or injury. It also helps with anxiety, behavior, and learning disabilities. Congenital muscular dystrophy can take a toll on the emotional and social well being of children because they can't partake in some of the same activities as their peers or learn as quickly as others. Through play, children can learn coping mechanisms for some of the emotions they feel.
Swimming/ water therapy is common for children with Congenital Muscular Dystrophy because the water allows them to feel a sense of freedom that they don't usually feel when on land. The warm water helps them relax which reduces their anxiety and improves their emotional well being.