T3 L6: Clinical Biochemistry; musculoskeletal system (KS)
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Questions and Answers

Which of the following symptoms is commonly associated with metabolic muscle diseases?

  • Exercise intolerance (correct)
  • Diabetes
  • Hearing loss
  • Short stature
  • Which of the following is a biochemical abnormality commonly seen in metabolic muscle diseases?

  • Elevated CK (correct)
  • Elevated troponin
  • Hypoglycemia
  • Abnormal liver function tests
  • Which genetic mutation is commonly associated with Duchenne muscular dystrophy?

  • Dystrophin gene (correct)
  • NUDT15 gene
  • Thiopurine methyl transferase gene
  • AChR gene
  • Which of the following is a common symptom of myasthenia gravis?

    <p>All of the above</p> Signup and view all the answers

    Which marker is a specific indicator of bone resorption?

    <p>CTX</p> Signup and view all the answers

    Which marker is a fairly good indicator of bone formation?

    <p>P1NP</p> Signup and view all the answers

    Which of the following is a use of bone turnover markers (BTM)?

    <p>Predicting fracture risk</p> Signup and view all the answers

    Which of the following is a symptom of metabolic muscle diseases?

    <p>Muscle pain after exercise</p> Signup and view all the answers

    What is the most common cause of rhabdomyolysis?

    <p>Injury</p> Signup and view all the answers

    What is the main component of skeletal muscle?

    <p>Proteins</p> Signup and view all the answers

    What is the role of myoglobin in rhabdomyolysis-induced renal failure?

    <p>Increases urine concentration</p> Signup and view all the answers

    Which of the following is not a cause of increased creatine kinase (CK) levels?

    <p>Myotonia</p> Signup and view all the answers

    What is the most appropriate management for hypovolemia in rhabdomyolysis?

    <p>Fluid replacement</p> Signup and view all the answers

    Which of the following is a characteristic of metabolic muscle diseases?

    <p>Exercise intolerance</p> Signup and view all the answers

    Which of the following is NOT a biochemical marker of muscle damage?

    <p>Troponin</p> Signup and view all the answers

    Which of the following is NOT a cause of skeletal muscle disease?

    <p>Metabolic bone diseases</p> Signup and view all the answers

    Which of the following is NOT a non-metabolic cause of muscular diseases?

    <p>Metabolic myopathies</p> Signup and view all the answers

    Which of the following is NOT a genetic metabolic disorder associated with muscle disease?

    <p>Hyperthyroidism</p> Signup and view all the answers

    Which of the following is a bone-turnover marker?

    <p>Alkaline Phosphatase (ALP)</p> Signup and view all the answers

    Which of the following is NOT a rheumatological disease?

    <p>Hyperadrenalism</p> Signup and view all the answers

    Which of the following is NOT a metabolic bone disease?

    <p>Hyperthyroidism</p> Signup and view all the answers

    Which laboratory investigations are commonly used in the diagnosis of osteoporosis?

    <p>TFT, PTH, 25(OH)D</p> Signup and view all the answers

    What are the common secondary causes of osteoporosis?

    <p>Endocrine malignancy, connective tissue disease, hyperparathyroidism</p> Signup and view all the answers

    Which radiology technique is commonly used in the diagnosis of osteoporosis?

    <p>DEXA</p> Signup and view all the answers

    What can bone turnover markers (BTM) tell you about osteoporosis?

    <p>Treatment complications</p> Signup and view all the answers

    What is the aim in the treatment of gout?

    <p>Decrease urate levels</p> Signup and view all the answers

    What percentage of adults are affected by gout?

    <p>1%</p> Signup and view all the answers

    Which of the following is NOT a common secondary cause of osteoporosis?

    <p>Marfan syndrome</p> Signup and view all the answers

    Which laboratory investigation is commonly used to monitor therapy for osteoporosis?

    <p>Bone turnover markers (BTM)</p> Signup and view all the answers

    Which of the following is NOT a common anabolic or anti-resorptive therapy for osteoporosis?

    <p>Gastrointestinal disease</p> Signup and view all the answers

    What is the marker commonly used to demonstrate muscle damage?

    <p>Creatine kinase</p> Signup and view all the answers

    What is the specific marker for cardiac muscle damage?

    <p>Troponin</p> Signup and view all the answers

    Which of the following is NOT a cause of muscle disease?

    <p>Fatty acid oxidation</p> Signup and view all the answers

    Which of the following is a non-metabolic cause of muscle disease?

    <p>Inflammation</p> Signup and view all the answers

    Which of the following is a symptom commonly associated with mitochondrial diseases?

    <p>Hearing loss</p> Signup and view all the answers

    Which of the following is a common symptom of fatty acid oxidation defects?

    <p>Muscle weakness</p> Signup and view all the answers

    Which of the following tests is commonly used to diagnose metabolic disorders?

    <p>Lactate</p> Signup and view all the answers

    What is the main purpose of testing lactate levels in a metabolic crisis?

    <p>To assess energy production in cells</p> Signup and view all the answers

    Which of the following is a common cause of rhabdomyolysis?

    <p>Excessive exercise</p> Signup and view all the answers

    What is the main component released into the circulation during rhabdomyolysis?

    <p>Myoglobin</p> Signup and view all the answers

    Which of the following is NOT a metabolic muscle disease?

    <p>Rhabdomyolysis</p> Signup and view all the answers

    What is the most appropriate management for hypovolemia in rhabdomyolysis?

    <p>Fluid replacement</p> Signup and view all the answers

    Which of the following is a potential cause of rhabdomyolysis-induced renal failure?

    <p>High uric acid levels</p> Signup and view all the answers

    Which of the following is a potential complication of compartment syndrome?

    <p>Permanent muscle damage</p> Signup and view all the answers

    Which of the following is NOT a recommended management strategy for rhabdomyolysis?

    <p>Colonization with vitamin C</p> Signup and view all the answers

    Which of the following is a potential cause of increased creatine kinase (CK) levels?

    <p>Muscle injury</p> Signup and view all the answers

    Which of the following is a common symptom of metabolic muscle diseases?

    <p>Exercise intolerance</p> Signup and view all the answers

    Which of the following is NOT a genetic metabolic disorder associated with muscle disease?

    <p>Polymyositis</p> Signup and view all the answers

    Which of the following is a characteristic of metabolic muscle diseases?

    <p>Symmetrical muscle weakness</p> Signup and view all the answers

    Which laboratory investigation is commonly used to monitor therapy for osteoporosis?

    <p>Bone turnover markers (BTMs)</p> Signup and view all the answers

    Which of the following conditions is characterized by antibodies to the acetylcholine receptor?

    <p>Myasthenia gravis</p> Signup and view all the answers

    What is the role of myoglobin in rhabdomyolysis-induced renal failure?

    <p>It can cause kidney damage</p> Signup and view all the answers

    Which of the following is NOT a symptom commonly associated with metabolic muscle diseases?

    <p>Twitching muscles</p> Signup and view all the answers

    What is the main component of skeletal muscle?

    <p>Actin</p> Signup and view all the answers

    Which of the following conditions is characterized by weak muscles despite their large appearance?

    <p>Muscle fibrosis</p> Signup and view all the answers

    Which of the following is a common secondary cause of osteoporosis?

    <p>Hormonal imbalance</p> Signup and view all the answers

    Which type of muscle is NOT discussed in this module?

    <p>Smooth muscle</p> Signup and view all the answers

    According to the text, why is it interesting to study the biochemistry of the musculoskeletal system in isolation?

    <p>It helps make more sense when seeing patients in clinic</p> Signup and view all the answers

    What is the main aim in the treatment of gout?

    <p>All of the above</p> Signup and view all the answers

    Which of the following is NOT a common symptom of myasthenia gravis?

    <p>Muscle stiffness</p> Signup and view all the answers

    Study Notes

    Metabolic Muscle Diseases

    • Common symptoms include muscle weakness, pain, and exercise intolerance.
    • Biochemical abnormalities often involve enzyme deficiencies affecting metabolism.

    Duchenne Muscular Dystrophy

    • Linked to mutations in the dystrophin gene, resulting in muscle degeneration.

    Myasthenia Gravis

    • Symptoms include muscle fatigue and weakness, particularly in the eyes and limbs.

    Bone Turnover Markers

    • Specific indicator of bone resorption: C-terminal telopeptide (CTx).
    • Indicator of bone formation: Alkaline phosphatase (ALP).
    • Used to monitor osteoporosis and assess therapy effectiveness.

    Rhabdomyolysis

    • Most common cause: muscle injury from overexertion or trauma.
    • Main muscle component released during rhabdomyolysis: myoglobin.
    • Main management for hypovolemia: aggressive hydration.
    • Potential complication includes renal failure due to myoglobinuria.

    Skeletal Muscle Characteristics

    • Skeletal muscle primarily consists of muscle fibers and connective tissue.
    • Mitochondrial diseases often present with symptoms of fatigue and muscle weakness.

    Osteoporosis

    • Common causes include aging, hormonal changes, and nutrient deficiencies.
    • Diagnostic imaging technique: Dual-energy X-ray absorptiometry (DXA) is commonly used.
    • Laboratory investigations for monitoring include serum calcium and vitamin D levels.

    Gout

    • Aim of treatment is to reduce uric acid levels and manage flare-ups.
    • Affects approximately 4% of adults.

    Muscle Damage Markers

    • Commonly used markers include creatine kinase (CK) for muscle damage; troponin for cardiac muscle damage.

    Complications and Conditions

    • Compartment syndrome can lead to muscle necrosis and nerve damage.
    • Fatty acid oxidation defects often result in hypoglycemia and muscle weakness.

    General Notes

    • Non-metabolic causes of muscle disease include trauma and inflammatory conditions.
    • Recommended management strategies for rhabdomyolysis include hydration and monitoring renal function.
    • Characteristic of metabolic muscle diseases includes episodic muscle pain after exercise.
    • High creatine kinase levels can indicate muscle damage from various causes.

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    Description

    Test your knowledge on metabolic muscle diseases and their symptoms, including general muscle weakness, exercise intolerance, hearing loss, diabetes, and short stature. Learn about maternal inheritance and other related conditions like MERRF and Kearns-Sayre. Explore the causes of metabolic muscle diseases, including defects of fatty acid oxidation and lipid storage disorders. Challenge yourself with questions on muscle weakness, pain, myoglobinuria, and the onset of symptoms after exercise.

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