FrontalCortex, Inc. is a non-profit corporation dedicated to neurology education.

Hereditary Motor and Sensory Neuropathies 02

Topic: Pediatric

Created on Sunday, February 17 2008 by jdmiles

Last modified on Sunday, February 17 2008.

You examine a child with diminished ankle reflexes, scoliosis, wasting of the calf muscles, pes cavus, and weakness. On nerve conduction study, you find severe slowing of the conduction velocity. Several of the patient's relatives have had similar symptoms, including the patient's father, and 2 of his 4 siblings. Some of the patients nerves are palpable on exam. Of the following options, this disease is most likely is associated with which chromosome?

 
        A) 12
 
        B) 3
 
        C) 8
 
        D) 10
 
        E) 7
 

 


Back to the question = Go back to the top of the page.
See another question like this one = Reload a different version of this question ().
Click here for a random question = Load a random question from the database.
Clone this question = Use this question as a template to create a totally NEW question.
Rate this question = Enter detailed rating for this question!
Average user rating for this question = 4 = How users like you have rated this question.
This question was created on February 17, 2008 by jdmiles.
This question was last modified on February 17, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) 12

This answer is incorrect.


Charcot Marie Tooth (CMT) type 2C is a primarily axonal sensorimotor polyneuropathy. NCS would show normal or near-normal conduction velocities. CMT2C is associated with chromosome 12.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




B) 3

This answer is incorrect.


Charcot Marie Tooth (CMT) type 2B is a primarily axonal sensorimotor polyneuropathy. NCS would show normal or near-normal conduction velocities. CMT2B is associated with the RAB7 gene on chromosome 3.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




C) 8

This answer is incorrect.


Charcot Marie Tooth (CMT) type 2E is a primarily axonal sensorimotor polyneuropathy. NCS would show normal or near-normal conduction velocities. CMT2E is associated with the NEFL gene on chromosome 8.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




D) 10

This answer is correct.


Charcot Marie Tooth (CMT) type 1 (including subtypes A-D) is a demyelinating inherited sensorimotor polyneuropathy. Nerve conduction velocities are slow on NCS. It has autosomal dominant inheritance. CMT1A is associated with the PMP22 gene on chromosome 17, and is the most common form of inherited neuropathy. CMT1B is associated with the MPZ gene on chromosome 1. CMT1C is associated with the LITAF gene on chromosome 16. CMT1D is associated with the EGR2 gene on chromosome 10.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 




E) 7

This answer is incorrect.


Charcot Marie Tooth (CMT) type 2D is a primarily axonal sensorimotor polyneuropathy. NCS would show normal or near-normal conduction velocities. CMT2D is associated with the GARS gene on chromosome 7.  (See References)

Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

 

 

 

References:

1. Fenichel, G.M. (2005). Clinical Pediatric Neurology, 5th ed. Elsevier, Philadelphia. (ISBN:1416001697)Advertising:
2. Bosch, E.P., and Smith, B.E. (2004). Disorders of peripheral nerves. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 2299-2401 (ISBN:0750674695).Advertising:
3. Bashar Katirji. Electromyography in clinical practice: a case study approach. St. Louis, Mo. : Mosby, c2006. (ISBN:9780323028998)Advertising:
Back to the questionSee another question like this oneClick here for a random questionClone this question Rate this questionAverage user rating for this question = 4
Please log in if you want to rate questions.

 

FrontalCortex.com -- Neurology Review Questions -- Neurology Boards -- Board Review -- Residency Inservice Training Exam -- RITE Exam Review
pediatric
Hereditary Motor and Sensory Neuropathies 02
Question ID: 021708139
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/17/2008
Modified: 02/17/2008
Estimated Permutations: 2400

User Comments About This Question:

0 user entries
Please log in if you'd like to add a comment.