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School of Medicine >
Department of Neurology >
Medical Student Cases and Questions >
The Boy Who Got Weak
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A 6 y.o. boy was referred to pediatric neurology because delayed motor
milestones. The mother said that he was less active than his younger sister,
and that he had increasing difficulty climbing stairs. The patient had a
maternal uncle who died of pneumonia at the age of 20 and who was confined
to a wheelchair the last several years of his life because of muscular dystrophy.
On neurological exam his mental status was appropriate for age. On motor
testing he had moderate to severe hypotonia with moderate proximal weakness.
His calves were hypertrophied and his DTR's were diminished.
Questions:
- What is the relevance of above signs and symptoms? What is the diagnosis?
- What is the Gower's sign? How do you describe the waddling gait.
- What is the genetic basis of this disease?
- What are the diagnostic tests? How do you manage this case and what is the most common cause of death?
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Last Modified on 04/30/2008
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