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Questions and Answers
Which of the following symptoms is commonly associated with metabolic muscle diseases?
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?
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?
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?
Which of the following is a common symptom of myasthenia gravis?
Which marker is a specific indicator of bone resorption?
Which marker is a specific indicator of bone resorption?
Which marker is a fairly good indicator of bone formation?
Which marker is a fairly good indicator of bone formation?
Which of the following is a use of bone turnover markers (BTM)?
Which of the following is a use of bone turnover markers (BTM)?
Which of the following is a symptom of metabolic muscle diseases?
Which of the following is a symptom of metabolic muscle diseases?
What is the most common cause of rhabdomyolysis?
What is the most common cause of rhabdomyolysis?
What is the main component of skeletal muscle?
What is the main component of skeletal muscle?
What is the role of myoglobin in rhabdomyolysis-induced renal failure?
What is the role of myoglobin in rhabdomyolysis-induced renal failure?
Which of the following is not a cause of increased creatine kinase (CK) levels?
Which of the following is not a cause of increased creatine kinase (CK) levels?
What is the most appropriate management for hypovolemia in rhabdomyolysis?
What is the most appropriate management for hypovolemia in rhabdomyolysis?
Which of the following is a characteristic of metabolic muscle diseases?
Which of the following is a characteristic of metabolic muscle diseases?
Which of the following is NOT a biochemical marker of muscle damage?
Which of the following is NOT a biochemical marker of muscle damage?
Which of the following is NOT a cause of skeletal muscle disease?
Which of the following is NOT a cause of skeletal muscle disease?
Which of the following is NOT a non-metabolic cause of muscular diseases?
Which of the following is NOT a non-metabolic cause of muscular diseases?
Which of the following is NOT a genetic metabolic disorder associated with muscle disease?
Which of the following is NOT a genetic metabolic disorder associated with muscle disease?
Which of the following is a bone-turnover marker?
Which of the following is a bone-turnover marker?
Which of the following is NOT a rheumatological disease?
Which of the following is NOT a rheumatological disease?
Which of the following is NOT a metabolic bone disease?
Which of the following is NOT a metabolic bone disease?
Which laboratory investigations are commonly used in the diagnosis of osteoporosis?
Which laboratory investigations are commonly used in the diagnosis of osteoporosis?
What are the common secondary causes of osteoporosis?
What are the common secondary causes of osteoporosis?
Which radiology technique is commonly used in the diagnosis of osteoporosis?
Which radiology technique is commonly used in the diagnosis of osteoporosis?
What can bone turnover markers (BTM) tell you about osteoporosis?
What can bone turnover markers (BTM) tell you about osteoporosis?
What is the aim in the treatment of gout?
What is the aim in the treatment of gout?
What percentage of adults are affected by gout?
What percentage of adults are affected by gout?
Which of the following is NOT a common secondary cause of osteoporosis?
Which of the following is NOT a common secondary cause of osteoporosis?
Which laboratory investigation is commonly used to monitor therapy for osteoporosis?
Which laboratory investigation is commonly used to monitor therapy for osteoporosis?
Which of the following is NOT a common anabolic or anti-resorptive therapy for osteoporosis?
Which of the following is NOT a common anabolic or anti-resorptive therapy for osteoporosis?
What is the marker commonly used to demonstrate muscle damage?
What is the marker commonly used to demonstrate muscle damage?
What is the specific marker for cardiac muscle damage?
What is the specific marker for cardiac muscle damage?
Which of the following is NOT a cause of muscle disease?
Which of the following is NOT a cause of muscle disease?
Which of the following is a non-metabolic cause of muscle disease?
Which of the following is a non-metabolic cause of muscle disease?
Which of the following is a symptom commonly associated with mitochondrial diseases?
Which of the following is a symptom commonly associated with mitochondrial diseases?
Which of the following is a common symptom of fatty acid oxidation defects?
Which of the following is a common symptom of fatty acid oxidation defects?
Which of the following tests is commonly used to diagnose metabolic disorders?
Which of the following tests is commonly used to diagnose metabolic disorders?
What is the main purpose of testing lactate levels in a metabolic crisis?
What is the main purpose of testing lactate levels in a metabolic crisis?
Which of the following is a common cause of rhabdomyolysis?
Which of the following is a common cause of rhabdomyolysis?
What is the main component released into the circulation during rhabdomyolysis?
What is the main component released into the circulation during rhabdomyolysis?
Which of the following is NOT a metabolic muscle disease?
Which of the following is NOT a metabolic muscle disease?
What is the most appropriate management for hypovolemia in rhabdomyolysis?
What is the most appropriate management for hypovolemia in rhabdomyolysis?
Which of the following is a potential cause of rhabdomyolysis-induced renal failure?
Which of the following is a potential cause of rhabdomyolysis-induced renal failure?
Which of the following is a potential complication of compartment syndrome?
Which of the following is a potential complication of compartment syndrome?
Which of the following is NOT a recommended management strategy for rhabdomyolysis?
Which of the following is NOT a recommended management strategy for rhabdomyolysis?
Which of the following is a potential cause of increased creatine kinase (CK) levels?
Which of the following is a potential cause of increased creatine kinase (CK) levels?
Which of the following is a common symptom of metabolic muscle diseases?
Which of the following is a common symptom of metabolic muscle diseases?
Which of the following is NOT a genetic metabolic disorder associated with muscle disease?
Which of the following is NOT a genetic metabolic disorder associated with muscle disease?
Which of the following is a characteristic of metabolic muscle diseases?
Which of the following is a characteristic of metabolic muscle diseases?
Which laboratory investigation is commonly used to monitor therapy for osteoporosis?
Which laboratory investigation is commonly used to monitor therapy for osteoporosis?
Which of the following conditions is characterized by antibodies to the acetylcholine receptor?
Which of the following conditions is characterized by antibodies to the acetylcholine receptor?
What is the role of myoglobin in rhabdomyolysis-induced renal failure?
What is the role of myoglobin in rhabdomyolysis-induced renal failure?
Which of the following is NOT a symptom commonly associated with metabolic muscle diseases?
Which of the following is NOT a symptom commonly associated with metabolic muscle diseases?
What is the main component of skeletal muscle?
What is the main component of skeletal muscle?
Which of the following conditions is characterized by weak muscles despite their large appearance?
Which of the following conditions is characterized by weak muscles despite their large appearance?
Which of the following is a common secondary cause of osteoporosis?
Which of the following is a common secondary cause of osteoporosis?
Which type of muscle is NOT discussed in this module?
Which type of muscle is NOT discussed in this module?
According to the text, why is it interesting to study the biochemistry of the musculoskeletal system in isolation?
According to the text, why is it interesting to study the biochemistry of the musculoskeletal system in isolation?
What is the main aim in the treatment of gout?
What is the main aim in the treatment of gout?
Which of the following is NOT a common symptom of myasthenia gravis?
Which of the following is NOT a common symptom of myasthenia gravis?
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.
