Genetic and Developmental Disorders (ch15)
Quiz
•
Health Sciences
•
University
•
Hard
PTA 1030
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13 questions
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1.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
A physical therapist assistant is working with a patient using chest physical therapy techniques such as tapotment and chest wall stretching. Which of the following pathologies would fit with this treatment strategy?
Cystic Fibrosis
Pneumonia
Chronic Bronchitis
Cerebral Palsy
Answer explanation
Cystic Fibrosis is a genetic condition that leads to the production of thick, sticky mucus, particularly affecting the lungs and digestive system. Pulmonary hygiene techniques are essential in managing this condition as they help clear secretions, reduce infection risk, and improve breathing. Unlike asthma, which involves airway inflammation, or pneumonia, which is a lung infection, Cystic Fibrosis primarily results in mucus buildup that requires consistent airway clearance practices.
2.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
Duchenne muscular dystrophy, a disorder linked to a mutation on the X chromosome, typically affects which muscle type first and leads to what primary symptom?
Smooth muscles; respiratory difficulties
Skeletal muscles; progressive weakness
Cardiac muscles; arrhythmia
Nervous tissue; sensory loss
Answer explanation
Duchenne muscular dystrophy is a genetic disorder due to a mutation on the X chromosome, causing a deficiency in dystrophin, a protein essential for muscle stability. This leads to progressive skeletal muscle weakness, especially in the lower limbs. Unlike cerebral palsy, which is typically a motor condition present at birth, muscular dystrophy progressively worsens over time. The proximal musculature/posture is typically affected first.
3.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
The term pseudohypertrophy, where fat and connective tissue replace muscle tissue, is a hallmark symptom of which condition?
Cystic Fibrosis
Down Syndrome
Cerebral Palsy
Muscular Dystrophy
Answer explanation
Pseudohypertrophy is commonly seen in muscular dystrophy, particularly Duchenne muscular dystrophy, where the muscles appear enlarged but are weakened due to fat and connective tissue replacing muscle fibers. This differs from Down syndrome, which primarily involves low muscle tone, or cerebral palsy, which involves spasticity.
4.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
A physical therapist assistant is treating a pediatric patient with Down syndrome. This condition is caused by which of the following genetic abnormalities?
Trisomy 18
Deletion on chromosome 5
Trisomy 21
Trisomy 13
Answer explanation
Down syndrome is caused by an extra copy of chromosome 21, also known as trisomy 21. This genetic abnormality leads to a range of physical and intellectual developmental challenges, commonly including low muscle tone, joint laxity, and developmental delays.
5.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
Which of the following is most commonly associated with spina bifida?
Hydrocephalus
Aortic aneurysm
Cerebral palsy
Muscular dystrophy
Answer explanation
Spina bifida is a neural tube defect that occurs when the spine and spinal cord do not develop properly during fetal development. The spine does not fully close which leaves the spinal cord unprotected and at risk for damage. One of the most common complications of spina bifida is hydrocephalus, a condition in which there is an abnormal accumulation of cerebrospinal fluid in the brain. This often results from a blockage in the flow of cerebrospinal fluid or problems with its absorption, and it may require surgical intervention to place a shunt.
Aortic aneurysm is not typically associated with spina bifida but is more common in conditions affecting connective tissue like Marfan syndrome.
Cerebral palsy is a motor disorder caused by brain damage, and while both cerebral palsy and spina bifida may result from neurological impairments, they are separate conditions.
Muscular dystrophy involves progressive muscle weakness and is not a direct consequence of spina bifida.
6.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
A weakened aortic arch due to connective tissue abnormalities is a hallmark feature of which condition?
Ehlers-Danlos syndrome
Marfan Syndrome
Osteogenesis imperfecta
Turner syndrome
Answer explanation
Marfan syndrome is a genetic disorder that affects connective tissue, leading to abnormalities in structures such as the aorta, eyes, and skeleton. The weakening of the aortic arch, in particular, is a major concern in individuals with Marfan syndrome, as it can lead to aneurysms and aortic dissection.
Ehlers-Danlos syndrome also involves connective tissue defects but typically affects collagen, leading to hypermobility and skin fragility rather than aortic issues.
Osteogenesis imperfecta affects bone formation, leading to brittle bones, but it is not associated with the aortic arch.
Turner syndrome is a chromosomal disorder affecting females, with symptoms including short stature and cardiovascular issues, but it does not typically involve connective tissue weakness or aortic arch problems.
7.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
Which term most accurately describes a patient with Cerebral Palsy where one side of the body is affected?
Monoplegia
Hemiplegia
Diplegia
Quadriplegia
Answer explanation
In cerebral palsy (CP), diplegia refers to motor impairment primarily affecting both lower extremities, often with lesser involvement of the upper body. Here is a breakdown of other types of CP.
Hemiplegia: Involves one side of the body, affecting both the arm and leg on that side.
Quadriplegia: Involves all four limbs (both arms and legs) and typically has more extensive impairments, often impacting the trunk and face as well.
Monoplegia: Affects only one limb, usually an arm.
Each type indicates the areas of the body primarily affected, but the severity and functional impact can vary widely among individuals with CP.
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