Charcot-Marie-Tooth disease type 2F

What causes Charcot-Marie-Tooth disease type 2F?

Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently.

It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.

Last updated on 05-01-20

Is genetic testing available for Charcot-Marie-Tooth disease type 2F?

Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.

Last updated on 05-01-20

How is Charcot-Marie-Tooth disease type 2F inherited?

Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.

Last updated on 05-01-20

How might Charcot-Marie-Tooth disease type 2F be treated?

Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists.

Depending on the individual's signs and symptoms, the following may be indicated:

  • Special shoes, including those with good ankle support
  • Ankle/foot orthoses (AFO) to correct foot drop and aid with walking
  • Orthopedic surgery to correct severe pes cavus
  • Forearm crutches or canes for stability (fewer than 5% of affected individuals need wheelchairs)
  • Treatment of sleep apnea or restless legs
  • Treatment of pain and depression as needed

Last updated on 05-01-20

Healthcare Resources

The Neuropathy Association - Charcot-Marie-Tooth Physician Directory

The Neuropathy Association has a Physicians Directory that lists neurologists and other physicians with expertise or expressed interest in caring for patients with peripheral neuropathy. This list is provided by The Neuropathy Association as a service to its members who have difficulty in locating a physician in their area who is knowledgeable about peripheral neuropathy and neuropathy treatment options. To search The Neuropathy Association's Physician Directory, click here.

Last updated on 04-27-20

Name: Charcot-Marie-Tooth Association PO Box 105
Glenolden, PA, 19036, United States
Phone: +1-610-499-9264 Toll Free: 1-800-606-2682 Fax : +1-610-499-9267 Email: Url:
Name: Hereditary Neuropathy Foundation Inc. 401 Park Avenue, 10th Floor
New York, NY, 10016, United States
Phone: +1-212-722-8396 Toll Free: 1-855-435-7268 Fax : +1-917-591-2758 Email: Url:
Name: Charcot-Marie-Tooth UK CMT UK 3 Groveley Road Christchurch, Dorset BH23 3HB
United Kingdom
Phone: 0300 323 6316 Email: Url:
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: Url:
Name: Muscular Dystrophy UK 61A Great Suffolk Street
London, SE1 0BU, United Kingdom
Phone: (+44) 0 020 7803 4800 Toll Free: 0800 652 6352 (Helpline) Email: Url:
Name: Charcot-Marie-Tooth Association Australia Inc. Building 22 Concord Hospital
Concord, NSW, 2139, Australia
Phone: (02) 9767 5105 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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