A
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A 64 year old female complains of difficulty swallowing and arising from chairs. Examination shows asymmetric patchy weakness, especially in the quadriceps and hand grip. Serum CK is 300. Answer: Amyloid stains (Congo red or others) Differential diagnosis: Inclusion body myositis; Distal myopathy; Oculopharyngeal dystrophy |
B
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A 20 year old male noted muscle discomfort during intense exercise. Examination shows normal strength, and a tendency to "give way". Serum CK is 500. EMG is myopathic. Answer: PAS & Phosphorylase Diagnosis: Phosphorylase deficiency (McArdle's) |
C
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A 35 year old male is admitted to the ICU for respiratory failure. Exam shows a vital capacity of 50% of predicted, and weakness of thigh adductors. Serum CK is 1,465. EMG shows myopathy and fibrillations. Answer: PAS & Biochemical analysis for Acid maltase Diagnosis: Acid maltase deficiency |
D
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An 8 year old female has chronic, slowly progressive weakness. She was normal until 1.5 years of age. Examination shows weakness in proximal & facial muscles. Serum CK is 600. Cardiac evaluation: Ventricular hypertrophy & R bundle branch block. Answer: Sudan Black, or Oil Red O Diagnosis: Carnitine deficiency |
E
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An 20 year old male is evaluated for myalgias. Examination shows mild proximal weakness. Serum CK is 300. Answer: NADH Diagnosis: Tubular aggregates |
F
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A 20 year old male has had several episodes of weakness on awakening. Now he is having difficulty arising from chairs. Examination shows mild proximal weakness. EMG is myopathic. Answer: H&E Diagnosis: Hypokalemic periodic paralysis |