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Old 04-20-2012
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Question Muscle Weakness, High Arch, and Claw Toes!

A 22-year-old otherwise healthy student came to the clinic complaining of decreased ability to run because of foot drop, muscle weakness and decreased touch sensation, in his feet, ankles and legs. Physical examination of lower limbs revealed the lack of muscle, a high arch, and claw toes. Electromyography/nerve conduction study showed diffusely and equally decreased conduction velocities in lower limbs.

Part 1) What is the most likely diagnosis?

A) Guillain-Barre syndrome
B) Myasthenia gravis
C) Charcot-Marie-Tooth disease
D) Duchenne muscular dystrophy
E) Becker muscular dystrophy
F) Vitamin B12 deficiency
G) Myotonic dystrophy
H) Acute intermittent porphyria

Part 2)
If a genetic abnormality is involved in this condition, which chromosome is highly affected?

A) 15
B) 16
C) 17
D) 18
E) 21
F) 22
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Old 04-20-2012
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it's Charcot Marie Tooth have no idea about chromosome involved
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Old 04-20-2012
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c) c)
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Old 04-20-2012
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CMT is an inherited demyelinating disease of the peripheral nervous system. CMT is predominantly characterized by loss of muscle tissue and touch sensation, in the feet, ankles and legs as it progresses over time. As well as in the hands, wrists and arms in various types of the disease. Early and late onset forms occur with 'on and off' painful spasmodic muscular contractions that can be disabling when the disease activates.
High arched feet, pes cavus, are classically associated with the disorder. Sensory and proprioceptive nerves in the hands and feet are often damaged, while pain nerves are left intact.
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Old 04-20-2012
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Its Charcot Marie Tooth. Chromosome 17 affected
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The above post was thanked by:
Farrukh Munir (04-21-2012)



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