Myotonic Dystrophy Case Study Examples

HC is a 3-year-old girl who is currently attending to Pediatria. She has been diagnosed with congenital myotonic dystrophy, hypotonia, and development delay. Additionally, she has a gastrostomy with an PEG tube in place. The information provided in her medical history states that she was born full term with no prenatal care, weighting 2.3 kg. She was admitted to the NICU for meconium aspiration, respiratory distress and hypotonia. Afterwards, she was discharged home and at a 5 month WIC visit was noted that she had hypotonia and difficulty breathing. After referrals to more specialized doctors she was finally diagnosed with congenital myotonic dystrophy
Myotonic dystrophy (DM) is a genetic disorder that affects many parts of the body. There are different types of DM, and some cause more serious problems than others. There is currently no cure for myotonic dystrophy. According to the Myotonic Dystrophy Foundation, the most common effects of DM are muscle problems, including muscle weakness (myopathy), trouble relaxing a muscle (myotonia), and muscle wasting that gets worse over time (atrophy). My patient showed signs of myopathy during my observation
Compared to the development milestone norm, HC has a delay in her physical, cognitive and language progress compared to a 3 year old child. This student
In the case of my assigned student, she receives musical therapy as well as physical therapy. Both of these therapies are crucial to the development of this children. For example, music therapy encourages socialization, self-expression, communication and motor development. Physical therapy helps them strengthen their muscle, improve coordination. Overall this was a great experience. I was able to see firsthand the difficulties that these children are living due to many health problems and