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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Charcot-Marie-Tooth disease type 1A


Other Names for this Disease
  • Charcot Marie Tooth disease type 1A
  • Charcot-Marie-Tooth disease, demyelinating, type 1A
  • CMT 1A
  • Hereditary motor and sensory neuropathy 1A
  • HMSN 1A
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Your Question

My daughter's father was diagnosed with CMT1A in childhood. My daughter is very active and we decided to not have her tested, unless she shows symptoms. I have noticed that her hands sometimes shake. Should this be a concern? Also she walks on her tip toes. She has since she started walking. However I did too as a child and I don't have the disease. Her father has stated that he has never been physically able to walk on his toes even as a child. I read so many things on the internet and it's so confusing. Her feet do not look abnormal. Anyway I was just wondering about the toe walking and the hands shaking sometimes.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is toe walking and hand shaking early signs of Charcot-Marie-Tooth disease type 1A?

Some people with Charcot-Marie-Tooth disease type 1A (CMT1A) do experience mild shaking or tremors of the hands.[1] However, tremors commonly occur in normal individuals as well. Anxiety, fear, physical exhaustion, low blood sugar, thyroid disorders, caffeine, fever, alcohol, and certain drugs can all be involved in causing tremor.[2]

Toe walking is not typically an early sign of CMT1A, rather more often it is a "slap foot gait" due to weakness in the lower legs (foot drop). Clumbsiness or frequent tripping are other early signs. As CMT1A progresses a person may develop tight heel cords.  Children with tight heel cords often walk on their toes, however toe walking is a common habit among unaffected children as well.[3]

Last updated: 10/9/2013

How can I know for certain if my daughter is showing early signs of Charcot-Marie-Tooth disease type 1A?

To know for certain, we recommend you to discuss your concerns with a neuromuscular disease specialist or a genetics professional. To find a specialist near you, we recommend that you contact your daughter's primary healthcare provider for a referral.

The following online resources can also help you find a professional in your community: 
 
Last updated: 10/9/2013

References