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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

Do people with CMT type 1A relapse or does the illness just progress to a more advanced stage? I am aware that it is progressive. I have not read or heard of relapses in this disease, but as it is similar to MS, wondered whether this is a possibility or whether the illness itself is progressing and I will therefore have to learn to accept it. I have experienced periods similar to this but never as extreme.

Our Answer

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

How might the signs and symptoms of Charcot-Marie-Tooth disease type 1A (CMT1A) change over time?

CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression.[1] Occasionally, individuals show accelerated deterioration of function over a few years.[2] Nerve conduction velocities (NCVs) tend to slow progressively over the first two to six years of life, but they appear to remain relatively stable throughout adulthood.[1]

Worsening of signs and symptoms tends to be slow in the second to fourth decades of life.[3] It remains to be confirmed whether, and to what extent, there is clinical and electrophysiological disease progression in affected adults; two studies of adult with CMT1A have shown conflicting results. Authors of one study reported disease progression over time (2–3 years on average), while authors of another study found that both patients and controls (individuals without the condition) had a similar decline of strength and of electrophysiological findings. The findings in the latter study suggested that the decline in adulthood in affected individuals may reflect a process of normal aging rather than on-going active disease.[4] Any major changes in the pace of progression may warrant consideration of additional acquired, or possibly independently inherited forms, of neuromuscular diseases.[3]

The severity of signs and symptoms of CMT1A can vary greatly among affected individuals. Individuals who have questions about their own specific signs and symptoms and how they may relate to progression of CMT should speak with their health care provider.
Last updated: 9/7/2012

References
  • Thomas D Bird. Charcot-Marie-Tooth Neuropathy Type 1. GeneReviews. August 18, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1205/. Accessed 9/7/2012.
  • Kliegman. Chapter 605 – Hereditary Motor-Sensory Neuropathies. In: Harvey B. Sarnat. Nelson Textbook of Pediatrics, 19th ed. Philadelphia, PA: Elsevier; 2001;
  • Francisco de Assis Aquino Gondim. Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type. Medscape Reference. February 6, 2012; http://emedicine.medscape.com/article/1173484-overview#a1. Accessed 9/7/2012.
  • Berciano J, Gallardo E, García A, Ramón C, Infante J, Combarros O. Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family. J Neurol. October 2010; 257(10):1633-1641.
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.