Case study # 3
Muscular dystrophy is a group of inherited conditions. They can happen as a child or an adult. There are many different types of muscular dystrophy. Some of which include the following:
* Emery-dreifuss muscular dystrophy
* Facioscapulohumeral muscular dystrophy
* Limb-girdle muscular dystrophy
* Duchenne muscular dystrophy
* Oculopharyngeal muscular dystrophy
* Becker muscular dystrophy
As mentioned before muscular dystrophy can affect adults but, the more severe forms are typically found in early childhood. The symptoms can vary among the different kinds of muscular dystrophy. Sometimes only specific groups of muscles are affected. The muscle weakness slowly worsens and symptoms that may occur can include:
* Ptosis (eyelid drooping)
* Delayed motor skills involving muscles
* Loss of strength or weakness in one muscle or a particular group of muscles
* Muscles shrinkage
* Delayed walking
* Patient is often a fall risk
* Some forms of muscular dystrophy can present with signs and symptoms related to intellectual disability.
Upon a physical exam and a through medical history including family history a physician’s exam may show scoliosis, clubfoot, clawhand, hypotonia, cardiomyopathy, arrhythmias & loss of muscle mass. Sometimes muscular dystrophy can cause pseudohypertrophy which is a buildup of fat and connective tissue that may make the muscle appear larger. The doctor may order some testing as well. These can include:
* Muscle biopsy
* electropcardiography (ecg)
* nerve conduction and electromyography (emg)
* urine and blood testing including a cpk level
* Genetic testing for some forms of muscular dystrophy.
There are no known cures for the various muscular dystrophies. The goal or the expected outcome in this case would be to control the symptoms. Physical therapy may be ordered to help maintain...