Charcot-Marie-Tooth Disease (CMT)
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. They are referred to as peripheral nerves because they are situated in the peripheral part of the body. It is described as a neuropathy since 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 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.
This is a multidisciplinary service, 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:
Your Visit May Include Interactions With:
- Genetic counselor
- Occupational therapist
- Orthopedic surgeon
- Pediatric specialist
- Physical therapist
- Research assistant
Evaluations typically take the entire day, ending around 4:30 or 5 p.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:
- 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
- Kids (21 and under) will do extra balance, strength, and hand dexterity tests to better understand the way CMT affects children
- Quality of Life (QoL)
- 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 greater detail. You always have the option of declining any of these procedures.
You will also be evaluated by Dr. Shy who will go over your medical history and perform 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. Some people will see an orthopedic surgeon as needed. Please contact us before your appointment with an orthopedic surgeon. We will 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.
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