Myopathy-Aversano

Question 1

What is the difference between myopathy and neuropathy?

Answer 1

Myopathy = proximal muscle weakness
Neuropathy = distal muscle weakness

Question 2

What can you measure in urine to check for muscle wasting?

Answer 2

Creatine Kinase (CK) and Myoglobinuria

Question 3

4 yo male presents with waddling gate, severe lordosis, pseudo hypertrophy of calves and Gower’s sign. What is their dx?

Answer 3

Duchenne Muscular Dystrophy

Question 4

What is Gower’s sign?

Answer 4

Using legs as wide base to stand up (walk up thighs)

Question 5

How is Becker Muscular Dystrophy different from Duchenne?

Answer 5

• Later onset

- More benign course (fewer cognitive and CV defects)

Question 6

What’s the deal with Dystrophin in Duchenne and Becker?

Answer 6

Absent in Duchenne

Abnormal or reduced in Becker

Question 7

10 yo pt presents with winging of scapula, “Popeye arms”, normal mentation and normal to slightly increased CK. What is their dx?

Answer 7

Facioscapulorhumeral muscular dystrophy

Question 8

Adult pt presents with “Hatchet face”, myotonia, dysarthria and “dive bomber” sound on EMG. What is their dx?

Answer 8

Myotonic dystrophy

Question 9

Pt presents with muscle hypertrophy (“Herculean appearance” but not actually strong).

Answer 9

Myotonia congenita

Question 10

Polymyositis

Answer 10

• Onset 30-60 yrs
• Proximal muscle weakness
• Autoimmune

Question 11

Dematomyositis

Answer 11

• Gottron papules: thickened erythematous patches over the knuckles, elbows and distal extensor joints

Question 12

Rhabdomolysis

Answer 12

Acute muscle destruction from: physical overexertion, trauma, toxins

Question 13

Toxic myopathy

Answer 13

• Acute causes: alcohol, toxins
• Chronic causes: statins, steroids
• Can lead to rhabdomolysis

Question 14

Malignant hyperthermia

Answer 14

• Muscular rigidity, tachycardia

- Tx: terminate anaesthetic