Rare Disease Report

Charcot-Marie-Tooth Neuropathy, A Diagnostic Journey

OCTOBER 29, 2014


Charcot-Marie-Tooth neuropathy is an inherited disorder affecting the peripheral motor and sensory neurons. Although it is an inherited condition, the main signs and symptoms such as decreased muscle size and weakness may not present until adolescence or early adulthood.

Signs and symptoms of Charcot-Marie-Tooth disease vary greatly but may include:
  •     Weakness in your legs, ankles and feet
  •     Loss of muscle bulk in legs and feet
  •     High foot arches
  •     Curled toes
  •     Decreased ability to run
  •     Difficulty lifting your foot at the ankle
  •     Awkward or higher than normal step
  •     Frequent tripping or falling
  •     Decreased sensation or a loss of feeling in your legs and feet
In this exclusive interview, Allison Moore, founder and CEO of Hereditary Neuropathy Foundation (HNF) talks about the struggles she had in getting a diagnosis but those struggles led her to form HNF, a leading non-profit organization focused on finding treatments for Charcot-Marie-Tooth and other inherited neuropathies.

For more information, visit www.hnf-cure.org

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