Przeczytaj poniższy przypadek kliniczny i ukończ całą lekcję. Następnie odpowiedz na pytania dotyczące przypadku klinicznego. To praktyczne zadanie pomoże Ci zastosować nowo nabytą wiedzę w realnych sytuacjach i poprawi Twoje umiejętności myślenia krytycznego. Ryan, a 7-year-old boy, was brought in by his parents due to concerns about his delayed motor skills development and frequent falls. His parents observed that Ryan struggled with getting up from the floor, experienced difficulty in climbing stairs, and often used a Gower’s maneuver (pushing on thighs to stand) to stand up from a seated position. Dr. Lewis, a pediatrician, conducted a thorough examination. He noted Ryan’s enlarged calf muscles and observed difficulty in rising from the floor without support. Dr. Lewis asked about Ryan’s family history, learning that Ryan’s older brother had a similar condition and was diagnosed with Duchenne muscular dystrophy (DMD) a few years earlier. Concerned about the possibility of DMD, Dr. Lewis recommended further testing, including a blood test for creatine kinase (CK) levels and a genetic test to confirm the diagnosis.The blood test showed elevated CK levels, a common finding in individuals with DMD due to muscle damage. Subsequent genetic testing confirmed a mutation in the dystrophin gene, confirming the diagnosis of DMD.DMD is a genetic disorder characterized by the absence or deficiency of dystrophin, a protein crucial for maintaining muscle integrity. This deficiency leads to progressive muscle weakness and deterioration, affecting mobility and quality of life.Dr. Lewis discussed treatment options and management strategies with Ryan’s parents. While there is no cure for DMD, various therapies and interventions aim to manage symptoms and support muscle function. Physical therapy, orthopedic devices, and medications to delay disease progression were recommended to optimize Ryan’s quality of life and manage symptoms.
Upon completing the lesson return to the case study and answer the following questions related to the provided scenario.
Describe the initial symptoms and the age at which symptoms typically manifest in individuals with Duchenne Muscular Dystrophy, as illustrated in the case study. Answer: In the case of the individual described, initial symptoms manifested around the age of 3 years old. These symptoms included delayed motor milestones such as difficulty in walking and climbing stairs, which progressed as the child aged. Detail the diagnostic methods employed in the case study to confirm Duchenne Muscular Dystrophy and their significance in diagnosing this condition. Answer:Genetic testing was used to identify specific mutations in the dystrophin gene. Muscle biopsies were performed to evaluate dystrophin levels, which were found to be reduced or absent. Elevated levels of creatine kinase (CK) were observed in blood tests, indicating muscle damage. Together, these tests are crucial in diagnosing Duchenne Muscular Dystrophy, confirming genetic mutations and muscle degeneration. Discuss the prognosis and progression of Duchenne Muscular Dystrophy as illustrated in the case study. Answer: Duchenne Muscular Dystrophy progresses with age, leading to a decline in muscle function and mobility. In the case study, the child experienced increasing difficulty in walking, climbing stairs, and performing everyday tasks. Over time, the condition affects vital muscles, including those related to respiration and cardiac function, impacting overall health and life expectancy.
Prefix
Meaning
Example
A-
No, not, without
Atonia (lack of muscle tone)
Ab-
Away from, negative
Abduction (movement away from midline)
Ad-
Toward, in the direction of
Adduction (movement toward midline)
Dys-
Bad, difficult, painful
Dyskinesia (abnormal movement)
Hyper-
Excessive, increased
Hypertonic (excessive muscle tone)
Bi-
Twice, double, two
Biceps (muscle with two heads)
Combining Forms
Combining Form
Meaning
Example
My/o
Muscle
Myopathy (disease of muscle tissue)
Fibr/o
Fibrous tissue, fiber
Fibromyalgia (chronic muscle pain)
Lei/o
Smooth
Leiomyoma (smooth muscle tumor)
Ten/o
Tendon
Tenodesis (surgical tendon repair)
Tendin/o
Tendon
Tendinopathy (disease of tendons)
Ton/o
Tension, tone, stretching
Tonicity (muscle tone)
Suffixes
Suffix
Meaning
Example
-Algia
Painful, painful
Myalgia (muscle pain)
-Asthenia
Weakness, lack of strength
Myasthenia (muscle weakness)
-Itis
Inflammation
Tendinitis (tendon inflammation)
-Oma
Tumor, neoplasm
Myoma (muscle tumor)
-Plasty
Surgical repair
Tenoplasty (tendon surgical repair)
-Rrhexis
Rupture
Myorrhexis (rupture of muscle fiber
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