An 18-year-old football player - cd45

[ArchivalUser]

is referred for evaluation of severe muscle cramping that occurred during games and elevated creatine kinase (CK) levels. On further questioning, he reports that he had similar muscle cramps as a wrestler in middle school when he restricted caloric intake and used a garbage bag under his clothes to manage his weight. What syndrome is suggested by this patient™s acute episodes of pain with prolonged exertion?
a. Benign muscle fasciculation
b. Duchenne™s muscular dystrophy
c. Inclusion body myositis
d. Inflammatory myopathy
e. Storage diseases

[ArchivalUser]

looks like e.
Von gierke or mcArdle ?

[ArchivalUser]

eeee.........mcardle disease

[ArchivalUser]

yes e
but why not MCAT def????? yes mcardles but why not mcat def?


Storage diseases. In storage diseases, enzyme deficiencies cause impaired purine, glycogen, or lipid utilization, resulting in symptoms ranging from mild muscle cramps to severe pain and elevated CK levels following exercise. The key difference between inflammatory myopathies and storage diseases is that weakness is present at initiation of an activity in myositis, whereas storage diseases require some degree of exertion before symptoms develop. The muscles affected in the storage diseases are primarily proximal, whereas weakness is generally distal and can be asymmetric in inclusion body myositis. Also, weakness in inclusion body myositis is insidious, progressing over a period of years, and is accompanied by muscle wasting. In muscle weaknesses, the major point of differential diagnosis is determining whether the disease is neuropathic or myopathic in origin. When accompanied by neurologic abnormalities, the presence of fasciculations is suggestive of destruction of the motor neuron or its axon. Benign fasciculations can occur in healthy persons, especially in the calves and hands. Duchenne™smuscular dystrophy is an X-linked recessive disorder that affects males almost exclusively. Onset usually occurs by 5 years with progressive muscle weakness of the girdle muscles; ambulation is severely affected by age 12 years.

[ArchivalUser]

could be either mc`ardles or MCAT def....can diff by muscle biopsy i think