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Review Question - QID 415

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QID 415 (Type "415" in App Search)
A 5-year-old boy has bilateral cavus feet and genetic testing reveals duplication of the PMP (peripheral myelin protein) gene on chromosome 17. What is the most likely diagnosis?

Myelodysplasia

3%

55/2053

Ewings Sarcoma

0%

4/2053

Charcot-Marie-Tooth Disease

96%

1965/2053

Cerebral Palsy

1%

11/2053

Poliomyelitis

0%

8/2053

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Charcot-Marie-Tooth disease, a group of diseases that affect the peripheral nerve, is moderately common, with an incidence of 1 in 2500 individuals. All forms of the disease manifest as distal weakness primarily in the foot and ankle; somewhat later in life the hand may be affected as well. Most patients usually present toward the end of the first decade with progressive cavovarus deformities of the feet associated with dorsiflexion of the toes during the swing phase of gait and contracture of the plantar fascia. There are 30 genes that now have been described in association with the different forms of HMSN, CMT disease. 70% of patients show a duplication of the peripheral myelin protein (PMP) gene on chromosome 17

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