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  #1  
Old 06-04-2012
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Question Incidental finding of elevated Creatine Kinase!

The family of a 4-year-old boy has just moved into your area. The child was recently brought to the emergency department (ED) for an evaluation of abdominal pain. Although appendicitis was ruled out in the ED and the child’s abdominal pain has resolved, the ED physician requested that the family follow up in your office to evaluate an incidental finding of an elevated creatine kinase. The family notes that he was a late walker (began walking independently at about 18 months of age), that he is more clumsy than their daughter was at the same age (especially when trying to hold onto small objects), and that he seems to be somewhat sluggish when he runs, climbs stairs, rises from the ground after he sits, and rides his tricycle. A thorough history and physical examination are likely to reveal which of the following?

a. Hirsutism
b. Past seizure activity
c. Proximal muscle atrophy
d. Cataracts
e. Enlarged gonads
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Old 06-04-2012
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I think this is Duchennes Muscular Atrophy, with Growers Sign?

But the answer choice doesnt make much sense cause i thought it was always atrophy of lower limb muscles (distal?).
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Quote:
Originally Posted by patelMD View Post
I think this is Duchennes Muscular Atrophy, with Growers Sign?

But the answer choice doesnt make much sense cause i thought it was always atrophy of lower limb muscles (distal?).
Pseudohypertrophy of Lower ext from fat replacing the muscle so ans is mostly atrophy of proximal
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c. Proximal muscle atrophy

People with this disorder typically experience progressive muscle weakness of the leg and pelvis muscles, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs in the arms, neck, and other areas, but not as noticeably severe as in the lower half of the body.
Calf muscles initially enlarge during the ages of 5-15 (an attempt by the body to compensate for loss of muscle strength), but the enlarged muscle tissue is eventually replaced by fat and connective tissue (pseudohypertrophy) as the legs become less used
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By the way there's difference regarding most accurate test in this dZ
Kaplan say we start with molecular genetic and if negative do muscle bx, so it consider genetic best test first
Uw say muscle bx is the best test
So which one is best when asking about most accurate!! Iwill go with muscle bx
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Old 06-09-2012
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This is myotonic dystrophy. There is distal muscle weakness and wasting as opposed to the other dystrophies which are characterized by proximal weakness. Cataracts are found in M.d. The answer is cataracts.
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Quote:
Originally Posted by add1 View Post
This is myotonic dystrophy. There is distal muscle weakness and wasting as opposed to the other dystrophies which are characterized by proximal weakness. Cataracts are found in M.d. The answer is cataracts.
Highly unlikely to be Myotonic dystrophy
For example, there nothing in the history about "anticipation"

Quote:
Myotonic dystrophy occurs in one per 8,000 live births. It is among the more common inherited neurological disorders and occurs equally in men and women. The disease most often affects members of the same family, often becoming more severe with successive generations - this is most true when the disorder is passed on from the mother, when passed on from the father the disease may become less severe.
Typically the disease first develops in the early teen years with hand weakness and a tendency towards foot drop. The patient may notice difficulty releasing a firm grasp especially in the cold. Handling objects such as keys, a hammer or the vacuum cleaner can be problematic. The characteristic appearance of a "haggard" or "mournful" face is caused by facial muscle wasting, frontal hair loss, drooping eyelids and an open mouth. In middle age the patient may develop frequent falls, minor difficulty swallowing, voice changes and recurrent jaw dislocations.
Congenital myotonic dystrophy has typical features present at birth. These include extremely decreased tone, shark mouth appearance due to facial weakness, a feeble cry, feeding difficulties, failure to thrive and club feet. The usual course is one of disability and severe mental retardation. Almost all children with congenital myotonic dystrophy are born to mothers with myotonic dystrophy and display a substantial increase in the size of the gene defect.
Quote:
The majority of persons with myotonic dystrophy will eventually
develop cataracts (cloudiness of the lens of the eye) that cause vision
to become blurry. Cataracts are often the first recognized sign of
DM. They can occur in persons without DM, especially in the
elderly. In DM however, cataracts develop at a younger age, usually
in the forties or fifties

Last edited by Novobiocin; 06-09-2012 at 07:38 PM.
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Quote:
Originally Posted by Novobiocin View Post
Highly unlikely to be Myotonic dystrophy
For example, there nothing in the history about "anticipation"
qbank explan

The child in
the question appears to have myotonic muscular dystrophy. An elevated creatine
kinase (especially in the preclinical phase) often is found, and psychomotor
retardation can be the presenting complaint (but may be identified only in
retrospect). Ptosis, baldness, hypogonadism, facial immobility with distal
muscle wasting (in older children), and neonatal respiratory distress (in the
newborn period) are major features of this disorder. Cataracts are commonly
seen, presenting either congenitally or at any point during childhood. The prominence
of distal muscle weakness in this disease is in contrast to the proximal
muscle weakness seen in most other forms of myopathies.
The diagnosis is
confirmed by identifying typical findings on muscle biopsy. Seizures are not
a feature of myotonic dystrophy. Enlarged gonads are associated with fragile
X syndrome, and hirsutism is found (among other things) in children with
congenital adrenal hyperplasia.
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