Charcot-Marie-Tooth Disease Clinic

The CMT Clinic at the University of Iowa specializes in diagnosing and treating people with various forms of CMT. CMT is a form of peripheral neuropathy. The term peripheral neuropathy refers to a problem that originates in the long nerves that start at the spinal cord and go out to the feet and the hands. Because they are in the peripheral of the body, they are referred to as peripheral nerves. It is described as a neuropathy, because the problem originates in the nerves and not in the muscle tissue itself, which would be a myopathy. Although there is muscle loss in people who have peripheral neuropathies, that is a direct result of the problem that occurs in the nerve itself, not a muscle problem. Peripheral neuropathy may be either inherited or acquired. Inherited forms of peripheral neuropathy are caused by changes, or mutations, in an individual’s genetic material, or DNA. All of the inherited peripheral neuropathies are collectively referred to as Charcot-Marie-Tooth disease (CMT).

CMT Skeleton with Hands and Feet Highlighted

CMT is generally a slowly progressive condition that can cause weakness in the extremities, sensory loss, and structural changes to the feet and hands. It damages parts of the peripheral nerve, either the myelin sheath or the axon, over time which leads to these symptoms. There are over 50 known forms of CMT, which can be passed on in families in various ways.

CMT Peripheral Nerve

Clinic Evaluation

The CMT clinic is a multidisciplinary clinic, meaning that many different specialists are involved in our evaluation. We specialize in focusing on each individual and their needs, adapting the clinic as needed to help with both diagnosis and management of various forms of CMT.

Please print, complete, and bring the following forms to your initial visit:

The clinic visit often includes:

  • Clinic Director/Neurologist - Dr. Michael Shy
  • Electrophysiology - Dr. Andrea Swenson
  • Genetic Counselor – Shawna Feely, Tiffany Grider, Janel Phetteplace
  • Research Assistant – Chelsea Bacon
  • Orthopedic surgery – Dr. Phinit Phisitkul
  • Pediatrics - Dr. Rosemary Shy & Dr. Seth Perlman
  • Physical Therapy – Mary Shepherd, Crystal Markfort, Bryan Stein
  • Occupational Therapy - Rachel Pins
  • Orthotist – Timothy Leist

CMT patient evaluation graph

Evaluations typically take the entire day, ending around 4:30/5:00p.m. Those coming in from out of town should plan on arriving the day before their appointment. You will initially meet with the genetic counselor to talk about the study and the specific testing that will be performed and to answer any questions.

Genetic issues related to CMT and options for testing will also be discussed. A series of tests will be performed, including:

  • Hand function testing – various painless tests to evaluate hand strength and function.
  • Nerve conduction velocity testing –measures the speed at which impulses travel through nerves –some people find this uncomfortable.
  • Peds Score – in order to better understand the way CMT affects children, kids (21 and under) will do extra balance, strength, and hand dexterity tests.
  • Quality of Life (QoL) – you will be asked to fill out a brief questionnaire about your quality of life.
  • Some patients may be asked to consider having a skin biopsy. If you qualify for this study, we will discuss this possibility with you in more detail. You always have the option to decline any of these procedures.

You will also be evaluated by Dr. Shy who will go over your medical history and do a neurologic examination. Most people will also be evaluated by an orthotist who will address possible rehabilitation needs such as bracing and physical and occupational therapy and some people will see an orthopedic surgeon as needed. If you need to see an orthopedic surgeon please let us know before your appointment. We send you a written dictation after the visit. This is written as if it is going to a physician, but we let you distribute it as you wish.

If you are interested in finding out more about the department of Neurology, our research and educational programs, news and events, or how you can give by donating, please visit our academic and departmental website.

Additional Resources

Outside Resources

Care Team