Genetic and Metabolic Disorders

Genetic and Metabolic Disorders US Medical PG Question 1: A 28-year-old woman comes to the physician for genetic counseling prior to conception. For the past year, she has had intermittent episodes of headache, nausea, abdominal pain, and tingling of her fingers. She also complains of dark urine during the episodes. Her mother and maternal uncle have similar symptoms and her father is healthy. Her husband is healthy and there is no history of serious illness in his family. Serum studies show elevated concentrations of porphobilinogen and δ-aminolevulinic acid. What is the probability of this patient having a child with the same disease as her?

• A. 25%
• B. 67%
• C. 50% (Correct Answer)
• D. 100%

Genetic and Metabolic Disorders Explanation: ***50%*** - This patient's symptoms (headache, nausea, abdominal pain, tingling, dark urine) and elevated **porphobilinogen** and **δ-aminolevulinic acid** are highly suggestive of **Acute Intermittent Porphyria** (AIP). - AIP is an **autosomal dominant** disorder. Therefore, there is a **50% chance** that any child of an affected parent will inherit the disease-causing allele. - Since her husband is healthy with no family history, he does not carry the mutation, making this a straightforward autosomal dominant inheritance calculation. *25%* - This probability would be expected in an **autosomal recessive** inheritance pattern when two carrier parents have a child, which is not the case here. - It would also be the probability for an X-linked recessive disorder if the mother is a carrier and the father is unaffected, and they are discussing a son's inheritance. - The clinical presentation and family history (mother and maternal uncle affected, consistent with autosomal dominant pattern) rule out this probability. *67%* - This probability is seen in specific genetic scenarios, such as the chance of a phenotypically normal sibling of an individual with an autosomal recessive disease being a carrier. - It's not a standard probability for direct offspring of an affected individual with an autosomal dominant condition. - This does not apply to the straightforward inheritance question being asked here. *100%* - This probability would occur if the disease were inherited in an **autosomal dominant** manner and the affected parent was **homozygous dominant** for the mutation. - However, this is extremely rare in AIP, as most affected individuals are **heterozygous**. - The family history pattern (affected mother with unaffected father having an affected child) is consistent with heterozygosity, not homozygosity.

Genetic and Metabolic Disorders US Medical PG Question 2: A 25-year-old man with a genetic disorder presents for genetic counseling because he is concerned about the risk that any children he has will have the same disease as himself. Specifically, since childhood he has had difficulty breathing requiring bronchodilators, inhaled corticosteroids, and chest physiotherapy. He has also had diarrhea and malabsorption requiring enzyme replacement therapy. If his wife comes from a population where 1 in 10,000 people are affected by this same disorder, which of the following best represents the likelihood a child would be affected as well?

• A. 0.01%
• B. 2%
• C. 0.5%
• D. 1% (Correct Answer)
• E. 50%

Genetic and Metabolic Disorders Explanation: ***Correct Option: 1%*** - The patient's symptoms (difficulty breathing requiring bronchodilators, inhaled corticosteroids, and chest physiotherapy; diarrhea and malabsorption requiring enzyme replacement therapy) are classic for **cystic fibrosis (CF)**, an **autosomal recessive disorder**. - For an autosomal recessive disorder with a prevalence of 1 in 10,000 in the general population, **q² = 1/10,000**, so **q = 1/100 = 0.01**. The carrier frequency **(2pq)** is approximately **2q = 2 × (1/100) = 1/50 = 0.02**. - The affected man is **homozygous recessive (aa)** and will always pass on the recessive allele. His wife has a **1/50 chance of being a carrier (Aa)**. If she is a carrier, she has a **1/2 chance of passing on the recessive allele**. - Therefore, the probability of an affected child = **(Probability wife is a carrier) × (Probability wife passes recessive allele) = 1/50 × 1/2 = 1/100 = 1%**. *Incorrect Option: 0.01%* - This percentage is too low and does not correctly account for the carrier frequency in the population and the probability of transmission from a carrier mother. *Incorrect Option: 2%* - This represents approximately the carrier frequency (1/50 ≈ 2%), but does not account for the additional 1/2 probability that a carrier mother would pass on the recessive allele. *Incorrect Option: 0.5%* - This value would be correct if the carrier frequency were 1/100 instead of 1/50, which does not match the given population prevalence. *Incorrect Option: 50%* - **50%** would be the risk if both parents were carriers of an autosomal recessive disorder (1/4 chance = 25% for affected, but if we know one parent passes the allele, conditional probability changes). More accurately, 50% would apply if the disorder were **autosomal dominant** with one affected parent, which is not the case here.

Genetic and Metabolic Disorders US Medical PG Question 3: A 30-year-old man is brought into the emergency room for complaints of acute onset chest pain and shortness of breath. He has a history of mental retardation and lives at home with his adoptive parents. His parents inform you that he has not seen a doctor since he was adopted as child and that he currently takes no medications. The patient's temperature is 99.1°F (37.3°C), pulse is 108/min, blood pressure is 125/70 mmHg, respirations are 25/min, and oxygen saturation is 92% on 2L nasal cannula. Physical exam is notable for a tall, thin individual with high-arched feet and mild pectus excavatum. There is mild asymmetry in the lower extremities with discomfort to dorsiflexion of the larger leg. Lung auscultation reveals no abnormalities. What is the most appropriate next step in management?

• A. Chest radiograph
• B. Serum blood test
• C. Genetic testing
• D. Angiogram
• E. Electrocardiogram (Correct Answer)

Genetic and Metabolic Disorders Explanation: ***Correct: Electrocardiogram*** - **Acute chest pain** mandates an immediate **ECG** as the first diagnostic test to rule out **ST-elevation myocardial infarction (STEMI)**, which requires emergent intervention (PCI or thrombolysis). - While this patient's presentation is highly suspicious for **pulmonary embolism (PE)** given the **unilateral leg swelling with pain on dorsiflexion** (suggestive of DVT), **tachycardia**, **tachypnea**, and **hypoxemia**, the ECG remains the most appropriate initial step per ACLS protocols for chest pain. - ECG can also show findings suggestive of PE (sinus tachycardia, S1Q3T3 pattern, right heart strain) and help differentiate cardiac from pulmonary etiologies. - The **Marfanoid features** (tall, thin, pectus excavatum, high-arched feet) raise concern for **aortic dissection**, which ECG can help evaluate alongside clinical assessment. *Incorrect: Chest radiograph* - Chest X-ray is critical in the workup and would typically be ordered simultaneously with or immediately after ECG in this patient with suspected PE. - CXR helps exclude pneumothorax, pneumonia, and can show classic PE findings (Westermark sign, Hampton's hump), though it is often normal in PE. - In the context of Marfan syndrome, CXR can reveal a widened mediastinum suggesting aortic dissection. - However, ECG takes precedence as the immediate first step for any acute chest pain presentation. *Incorrect: Serum blood test* - Laboratory tests including **cardiac troponins** (for MI), **D-dimer** (for PE), and **CBC** are important but take time to result. - D-dimer would be useful in this moderate-to-high probability PE case, but imaging (CT pulmonary angiography) would be more appropriate given the high clinical suspicion. - Blood tests do not provide the immediate actionable information needed as the first diagnostic step in acute chest pain. *Incorrect: Genetic testing* - While the patient's phenotype suggests **Marfan syndrome** or another connective tissue disorder, genetic testing is an outpatient diagnostic tool for long-term management. - It provides no immediate utility in the acute management of chest pain and respiratory distress. - Genetic counseling and testing would be appropriate after stabilization and initial workup. *Incorrect: Angiogram* - **CT pulmonary angiography** would be the definitive test for PE diagnosis after initial ECG and CXR, but is not the immediate first step. - **Cardiac catheterization** would be indicated if ECG showed STEMI or if there was high suspicion for ACS after initial workup. - **CT aortography** might be needed if aortic dissection is suspected based on initial findings. - Angiography is an invasive or advanced imaging procedure performed after non-invasive screening tests guide the diagnosis.

Genetic and Metabolic Disorders US Medical PG Question 4: A deficiency in which of the following lysosomal enzymes is inherited in a pattern similar to a deficiency of iduronate sulfatase (Hunter syndrome)?

• A. Sphingomyelinase
• B. Glucocerebrosidase
• C. Galactocerebrosidase
• D. Alpha-L-iduronidase
• E. Alpha-galactosidase A (Correct Answer)

Genetic and Metabolic Disorders Explanation: ***Alpha-galactosidase A*** - A deficiency in **alpha-galactosidase A** causes **Fabry disease**, which, like Hunter syndrome (iduronate sulfatase deficiency), is inherited in an **X-linked recessive** pattern. - Both conditions primarily affect males, with carrier females potentially exhibiting milder symptoms. *Sphingomyelinase* - A deficiency in sphingomyelinase leads to **Niemann-Pick disease types A and B**, which are inherited in an **autosomal recessive** pattern. - This mode of inheritance differs from the X-linked pattern of Hunter syndrome. *Glucocerebrosidase* - A deficiency in glucocerebrosidase causes **Gaucher disease**, inherited in an **autosomal recessive** pattern. - This is a common lysosomal storage disorder, but its inheritance pattern is distinct from X-linked disorders. *Galactocerebrosidase* - A deficiency in galactocerebrosidase causes **Krabbe disease (globoid cell leukodystrophy)**, which is inherited in an **autosomal recessive** pattern. - Krabbe disease is a severe neurodegenerative disorder, but its genetic transmission is not X-linked. *Alpha-L-iduronidase* - A deficiency in **alpha-L-iduronidase** causes **Hurler syndrome (MPS I)**, which is inherited in an **autosomal recessive** pattern. - While both Hunter and Hurler syndromes are mucopolysaccharidoses, their genetic inheritance patterns are different.

Genetic and Metabolic Disorders US Medical PG Question 5: A 9-year-old boy is brought to the physician because his parents are concerned that he has been unable to keep up with his classmates at school. He is at the 4th percentile for height and at the 15th percentile for weight. Physical examination shows dysmorphic facial features. Psychologic testing shows impaired intellectual and adaptive functions. Genetic analysis shows a deletion of the long arm of chromosome 7. Which of the following is the most likely additional finding in this patient?

• A. Absent thymus gland
• B. Supravalvular aortic stenosis (Correct Answer)
• C. Brushfield spots on the iris
• D. Testicular enlargement
• E. Hand flapping movements

Genetic and Metabolic Disorders Explanation: ***Supravalvular aortic stenosis*** - The clinical presentation, including **dysmorphic facial features**, **growth restriction**, and **intellectual disability**, coupled with a **deletion on the long arm of chromosome 7**, is highly suggestive of **Williams syndrome**. - **Supravalvular aortic stenosis** is a classic cardiovascular finding in **Williams syndrome**, present in about 75% of affected individuals. *Absent thymus gland* - An absent thymus gland is characteristic of **DiGeorge syndrome**, which is caused by a **deletion on chromosome 22q11**. - This patient's genetic analysis indicates a deletion on **chromosome 7**, not chromosome 22. *Brushfield spots on the iris* - **Brushfield spots** are characteristic of **Down syndrome** (**trisomy 21**). - The genetic finding of a **deletion on chromosome 7** rules out Down syndrome as the underlying cause. *Testicular enlargement* - **Testicular enlargement** is a hallmark feature of **Fragile X syndrome**, a genetic condition caused by an **FMR1 gene mutation** on the X chromosome. - This patient's symptoms and genetic findings of a **chromosome 7 deletion** are not consistent with Fragile X syndrome. *Hand flapping movements* - **Hand flapping** is a common repetitive behavior observed in individuals with **autism spectrum disorder** and is also seen in some other genetic conditions like **Rett syndrome**. - While individuals with Williams syndrome may have unique behavioral profiles, hand flapping is not a specific or typical feature of the syndrome, and the genetic finding points to Williams syndrome.

Genetic and Metabolic Disorders US Medical PG Question 6: An 8-year-old child with “elfin” facial features is very friendly with strangers. He has a history of mild mental retardation, and a hemizygous deletion on chromosome 7q11.23, that includes a portion of the elastin gene. Which of the following is most likely true in this patient?

• A. Vitamin D supplementation is recommended
• B. Symptoms may develop secondary to left ventricular outflow tract obstruction (Correct Answer)
• C. This patient is less likely to experience angina
• D. Holosystolic murmur heard at the apex with radiation to the axilla
• E. Carpopedal spasm induced by sphygmomanometer inflation

Genetic and Metabolic Disorders Explanation: ***Symptoms may develop secondary to left ventricular outflow tract obstruction*** * The clinical description of **elfin facies**, extreme friendliness, mild mental retardation, and a deletion on **chromosome 7q11.23** (involving the **elastin gene**) are classic features of **Williams syndrome**. * **Supravalvular aortic stenosis (SVAS)**, a form of left ventricular outflow tract obstruction, is a common and serious cardiac anomaly in Williams syndrome due to the elastin gene deletion. *Vitamin D supplementation is recommended* * Patients with Williams syndrome often experience **hypercalcemia** in infancy, making vitamin D supplementation generally contraindicated rather than recommended. * This hypercalcemia usually resolves spontaneously in later childhood. *This patient is less likely to experience angina* * Due to the high prevalence of **supravalvular aortic stenosis** and other vascular abnormalities in Williams syndrome, these patients are actually **more likely** to experience cardiovascular symptoms, including **angina**, especially with physical exertion. * Stenosis can lead to increased myocardial oxygen demand, potentially causing angina. *Holosystolic murmur heard at the apex with radiation to the axilla* * A holosystolic murmur at the apex radiating to the axilla is characteristic of **mitral regurgitation**, which is not the primary or most common cardiac anomaly in Williams syndrome. * The characteristic murmur in Williams syndrome due to supravalvular aortic stenosis is typically a **systolic ejection murmur** heard best in the right upper sternal border, often radiating to the neck. *Carpopedal spasm induced by sphygmomanometer inflation* * **Carpopedal spasm** induced by sphygmomanometer inflation (Trousseau's sign) is indicative of **hypocalcemia**. * Patients with Williams syndrome typically experience **hypercalcemia**, not hypocalcemia, particularly during infancy.

Genetic and Metabolic Disorders US Medical PG Question 7: A 28-year-old male presents to his primary care physician with complaints of intermittent abdominal pain and alternating bouts of constipation and diarrhea. His medical chart is not significant for any past medical problems or prior surgeries. He is not prescribed any current medications. Which of the following questions would be the most useful next question in eliciting further history from this patient?

• A. "Does the diarrhea typically precede the constipation, or vice-versa?"
• B. "Is the diarrhea foul-smelling?"
• C. "Please rate your abdominal pain on a scale of 1-10, with 10 being the worst pain of your life"
• D. "Are the symptoms worse in the morning or at night?"
• E. "Can you tell me more about the symptoms you have been experiencing?" (Correct Answer)

Genetic and Metabolic Disorders Explanation: ***Can you tell me more about the symptoms you have been experiencing?*** - This **open-ended question** encourages the patient to provide a **comprehensive narrative** of their symptoms, including details about onset, frequency, duration, alleviating/aggravating factors, and associated symptoms, which is crucial for diagnosis. - In a patient presenting with vague, intermittent symptoms like alternating constipation and diarrhea, allowing them to elaborate freely can reveal important clues that might not be captured by more targeted questions. *Does the diarrhea typically precede the constipation, or vice-versa?* - While knowing the sequence of symptoms can be helpful in understanding the **pattern of bowel dysfunction**, it is a very specific question that might overlook other important aspects of the patient's experience. - It prematurely narrows the focus without first obtaining a broad understanding of the patient's overall symptomatic picture. *Is the diarrhea foul-smelling?* - Foul-smelling diarrhea can indicate **malabsorption** or **bacterial overgrowth**, which are important to consider in some gastrointestinal conditions. - However, this is a **specific symptom inquiry** that should follow a more general exploration of the patient's symptoms, as it may not be relevant if other crucial details are missed. *Please rate your abdominal pain on a scale of 1-10, with 10 being the worst pain of your life* - Quantifying pain intensity is useful for assessing the **severity of discomfort** and monitoring changes over time. - However, for a patient with intermittent rather than acute, severe pain, understanding the **character, location, and triggers** of the pain is often more diagnostically valuable than just a numerical rating initially. *Are the symptoms worse in the morning or at night?* - Diurnal variation can be relevant in certain conditions, such as inflammatory bowel diseases where nocturnal symptoms might be more concerning, or functional disorders whose symptoms might be stress-related. - This is another **specific question** that should come after gathering a more complete initial picture of the patient's symptoms to ensure no key information is overlooked.

Genetic and Metabolic Disorders US Medical PG Question 8: A 9-month-old female is brought to the emergency department after experiencing a seizure. She was born at home and was normal at birth according to her parents. Since then, they have noticed that she does not appear to be achieving developmental milestones as quickly as her siblings, and often appears lethargic. Physical exam reveals microcephaly, very light pigmentation (as compared to her family), and a "musty" body odor. The varied manifestations of this disease can most likely be attributed to which of the following genetic principles?

• A. Incomplete penetrance
• B. Multiple gene mutations
• C. Pleiotropy (Correct Answer)
• D. Anticipation
• E. Variable expressivity

Genetic and Metabolic Disorders Explanation: ***Pleiotropy*** - **Pleiotropy** refers to a single gene affecting multiple seemingly unrelated phenotypic traits, which is evident in this case of **phenylketonuria (PKU)** where a single enzyme deficiency (phenylalanine hydroxylase) leads to **seizures**, developmental delay, **microcephaly**, hypopigmentation, and a **"musty" odor**. - The diverse clinical manifestations arise from the accumulation of phenylalanine and its metabolites, which are toxic to various organ systems, primarily the brain and also interfering with melanin synthesis. *Incomplete penetrance* - **Incomplete penetrance** describes a situation where individuals with a specific genotype do not always express the associated phenotype, meaning some might carry the gene but show no symptoms. - This principle usually describes "all or nothing" manifestation of the disease, not varied manifestations of one disease. *Multiple gene mutations* - This principle applies when a disease is caused by defects in **several different genes** working together or independently, leading to a complex inheritance pattern. - While many complex diseases involve multiple genes, the constellation of symptoms described (seizures, developmental delay, hypopigmentation, odor) in PKU points to a single primary defect with widespread effects. *Anticipation* - **Anticipation** describes a genetic phenomenon where the severity of disease increases and/or age of onset decreases in successive generations, typically seen in diseases like Huntington's or myotonic dystrophy due to unstable trinucleotide repeats. - The clinical presentation in this child does not suggest a pattern of worsening symptoms across generations within the family. *Variable expressivity* - **Variable expressivity** describes how individuals with the same genotype can exhibit different clinical features or varying degrees of disease severity. - While PKU can have variable expressivity (depending on dietary control or residual enzyme activity), the core concept explaining *why* so many *different types* of symptoms exist from a single gene defect is pleiotropy, not just variability in one type of symptom.

Genetic and Metabolic Disorders US Medical PG Question 9: A 51-year-old man presents to his physician with decreased libido and inability to achieve an erection. He also reports poor sleep, loss of pleasure to do his job, and depressed mood. His symptoms started a year ago, soon after his wife got into the car accident. She survived and recovered with the minimal deficit, but the patient still feels guilty due to this case. The patient was diagnosed with diabetes 6 months ago, but he does not take any medications for it. He denies any other conditions. His weight is 105 kg (231.5 lb), his height is 172 cm (5 ft 7 in), and his waist circumference is 106 cm. The blood pressure is 150/90 mm Hg, and the heart rate is 73/min. The physical examination only shows increased adiposity. Which of the following tests is specifically intended to distinguish between the organic and psychogenic cause of the patient’s condition?

• A. Angiography
• B. Duplex ultrasound of the penis
• C. Penile tumescence testing (Correct Answer)
• D. Biothesiometry
• E. Injection of prostaglandin E1

Genetic and Metabolic Disorders Explanation: ***Penile tumescence testing*** - This test, often performed as a **nocturnal penile tumescence (NPT) test**, measures erections during sleep. The presence of normal nocturnal erections indicates a **psychogenic** cause for erectile dysfunction, as physiological mechanisms are intact. - The absence of nocturnal erections, despite adequate sleep, suggests an **organic** cause, as the body's natural erectile reflex is impaired. *Angiography* - **Angiography** is an invasive procedure used to visualize blood vessels and identify arterial blockages or abnormalities. It is typically reserved for cases where vascular disease is strongly suspected as the cause of erectile dysfunction and often considered before revascularization surgery. - While it can identify **vascular organic causes** of erectile dysfunction, it does not directly differentiate between psychogenic and organic causes universally; it focuses specifically on arterial flow. *Duplex ultrasound of the penis* - **Duplex ultrasound** evaluates blood flow within the penile arteries and veins, assessing both arterial inflow and veno-occlusive function. It aids in diagnosing **vascular abnormalities**, such as arterial insufficiency or venous leakage. - Similar to angiography, duplex ultrasound identifies specific **organic vascular pathologies** but does not definitively distinguish between psychogenic and organic causes of erectile dysfunction if vascular function is normal. *Biothesiometry* - **Biothesiometry** measures penile vibratory sensation threshold, which assesses **neurological function** of the penis. It helps detect peripheral neuropathy, a potential organic cause of erectile dysfunction, especially in diabetic patients. - While useful for uncovering **neurological organic causes**, biothesiometry does not differentiate between psychogenic and organic etiologies in cases where neurological function is normal. *Injection of prostaglandin E1* - The **injection of prostaglandin E1** (alprostadil) is a diagnostic and therapeutic tool that induces an erection by relaxing smooth muscle in the penile arteries, increasing blood flow. A strong response indicates intact vascular smooth muscle function. - A successful response to prostaglandin E1 suggests that vascular smooth muscle and neurological pathways are largely functional, which can indirectly point away from severe organic causes, but it's not a definitive differentiator between **psychogenic and organic** causes as it by-passes some physiological mechanisms.

Genetic and Metabolic Disorders US Medical PG Question 10: A 22-year-old man presents to the emergency department with anxiety. The patient states that he is very anxious and has not been able to take his home anxiety medications. He is requesting to have his home medications administered. The patient has a past medical history of anxiety and depression. His current medications include clonazepam, amitriptyline, and lorazepam. Notably, the patient has multiple psychiatric providers who currently care for him. His temperature is 99.2°F (37.3°C), blood pressure is 130/85 mmHg, pulse is 112/min, respirations are 22/min, and oxygen saturation is 100% on room air. Physical exam is notable for an anxious, sweating, and tremulous young man who becomes more confused during his stay in the emergency department. Which of the following should be given to this patient?

• A. Diazepam (Correct Answer)
• B. Sodium bicarbonate
• C. Flumazenil
• D. Supportive therapy and monitoring
• E. Midazolam

Genetic and Metabolic Disorders Explanation: ***Diazepam*** - This patient presents with classic **benzodiazepine withdrawal syndrome**: anxiety, tremors, sweating, tachycardia, tachypnea, and progressive confusion after being unable to take his home benzodiazepines (clonazepam and lorazepam). - Benzodiazepine withdrawal is a **medical emergency** that can progress to seizures, delirium, and death if untreated. - **Diazepam** is the preferred treatment due to its **long half-life**, which provides smooth, sustained benzodiazepine receptor activity and prevents withdrawal progression. - The autonomic instability (elevated pulse and respiratory rate) and neurological symptoms (tremors, confusion) require immediate benzodiazepine administration, not just supportive care. *Supportive therapy and monitoring* - While monitoring is important, **supportive care alone is inadequate** for benzodiazepine withdrawal with autonomic instability and confusion. - Untreated benzodiazepine withdrawal can rapidly progress to **seizures, severe delirium, and cardiovascular collapse**. - The objective signs (tachycardia, tremors, sweating, confusion) indicate physiological withdrawal, not simply anxiety or drug-seeking behavior. - Active treatment with benzodiazepines is the **standard of care** to prevent life-threatening complications. *Sodium bicarbonate* - Sodium bicarbonate treats **metabolic acidosis** or specific overdoses (e.g., tricyclic antidepressants, aspirin). - There is no indication of acidosis or TCA toxicity in this presentation; the patient has withdrawal symptoms, not overdose. *Flumazenil* - Flumazenil is a benzodiazepine antagonist that **reverses benzodiazepine effects** in acute overdose. - It is **absolutely contraindicated** in patients with chronic benzodiazepine use or dependence, as it can precipitate **severe withdrawal, seizures, and status epilepticus**. - This patient needs benzodiazepine administration, not reversal. *Midazolam* - While midazolam is a benzodiazepine that could treat withdrawal acutely, its **short half-life** makes it less ideal for managing withdrawal syndrome. - **Diazepam or chlordiazepoxide** (long-acting agents) are preferred for withdrawal management as they provide sustained coverage and smoother tapering. - Midazolam would require frequent redosing and carries higher risk of rebound withdrawal.

Genetic and Metabolic Disorders Flashcard 1 of 10

Question: Which eating disorder is associated with functional hypothalamic amenorrhea and lanugo? _____

Answer: Anorexia nervosa

Genetic and Metabolic Disorders Flashcard 2 of 10

Question: Does narcolepsy have a strong or weak genetic component? _____

Answer: Strong

Genetic and Metabolic Disorders Flashcard 3 of 10

Question: _____ syndrome is when the parents perceive the child as especially susceptible to illness or injury

Answer: Vulnerable child

Genetic and Metabolic Disorders Flashcard 4 of 10

Question: Neuroleptic malignant syndrome is often characterized by a generalized '_____' rigidity

Answer: lead-pipe

Genetic and Metabolic Disorders Flashcard 5 of 10

Question: Gender _____ is persistent cross-gender identification that leads to persistent distress with sex assigned at birth

Answer: dysphoria

Genetic and Metabolic Disorders Flashcard 6 of 10

Question: _____ disorder is a preoccupation with a minor or imagined defect in appearance, causing significant emotional distress or impaired functioning

Answer: Body dysmorphic

Genetic and Metabolic Disorders Flashcard 7 of 10

Question: What is the general treatment for bipolar disorder? _____

Answer: Mood stabilizers

Genetic and Metabolic Disorders Flashcard 8 of 10

Question: Persistent depressive disorder is also known as _____

Answer: dysthymia

Genetic and Metabolic Disorders Flashcard 9 of 10

Question: _____ disorder is a childhood disorder characterized by poor social interactions, social communication deficits, repetitive/ritualized behaviors, and restricted interests

Answer: Autism spectrum

Genetic and Metabolic Disorders Flashcard 10 of 10

Question: What is the most common cause of genetic mental retardation?

Answer: Down syndrome (trisomy 21)