What is Charcot-Marie-Tooth disease - University of Iowa Hospitals ...

What is Charcot-Marie-Tooth disease(CMT)?Charcot-Marie Tooth disease (CMT), named forthree doctors who described the condition in thelate 1800’s, is one of the most commoninherited neurologic conditions. About one in2,500 people have CMT. CMT typically firstaffects the lower legs and feet leading toweakness, numbness, and sometimes changes inthe shape of the foot. As the conditionprogresses, weakness and numbness can alsooccur in the hands and forearms. CMT does notaffect a person’s intelligence and is usually notassociated with a shortened life span.Who is involved with the study?The CMT clinic is a multidisciplinary clinic,meaning that many different specialists areinvolved in our evaluation. This includes:Clinic Director/Neurologist - Dr. Michael ShyElectrophysiology - Dr. Andrea SwensonGenetic Counselor – Shawna FeelyNurse Specialist – Erin SpringerResearch Assistant – Chelsea BaconOrthopedic surgery – Dr. Frederick DietzPediatrics - Dr. Oranee Sanmanachee &Dr. Rosemary ShyPhysical Therapy – Karla LaubenthalOrthotist – Kris KittelsonPurpose of the clinic:The CMT Clinic at the University of Iowa isinterested in seeing people with all types ofinherited neuropathies. In addition to providingquality clinical care, we are also involved withclinical research studies to better understand theprogression and natural history of CMT andrelated conditions. Effective treatments ortherapies for CMT will require understanding thetiming and rate of progression of this condition inorder to judge the effectiveness of medication.We hope that these studies will form the basis forpatient evaluation procedures in future clinical trialsfor the treatment of CMT.The clinic has been in place since 1997 and patientsfrom all over the Unites States and over 25 countrieshave been evaluated. We believe that ourcombination of clinical and basic research, as well asthe multidisciplinary nature of our clinical approachenables us to be uniquely qualified to understandstudy and care for people with CMT.Our interest in inherited neuropathies is not limitedto either patient care or clinical research. Thephysicians involved all maintain basic sciencelaboratories that are looking at developingapproaches for the treatment of CMT. These studiesare ongoing, although no cure is ready for use inpatients at this time. Our laboratory investigationsare funded by the National Institutes of Health, theMuscular Dystrophy Association, and the Charcot-Marie-Tooth Association.What happens during an evaluation?Evaluations typically take the entire day, endingaround 4:30/5:00p.m. Those coming in from out oftown should plan on arriving the day before theirappointment. You will initially meet with thegenetic counselor to talk about the study and thespecific testing that will be performed and toanswer any questions.Genetic issues related to CMT and options fortesting will also be discussed. A series of testswill be performed, including:Hand function testing – various painlesstests to evaluate hand strength and function.Nerve conduction velocity testing –measuresthe speed at which impulses travel throughnerves –some people find this uncomfortable.Peds Score – in order to better understandthe way CMT affects children, kids (21 andunder) will do extra balance, strength, andhand dexterity tests.Quality of Life (QoL) – you will be asked tofill out a brief questionnaire about yourquality of life.**Some patients may be asked to considerhaving a skin biopsy. If you qualify for thisstudy, we will discuss this possibility with youin more detail. You always have the option todecline any of these procedures.You will also be evaluated by Dr. Shy whowill go over your medical history and do aneurologic examination. Most people will alsobe evaluated by an orthotist who will addresspossible rehabilitation needs such as bracingand physical and occupational therapy andsome people will see an orthopedic surgeon asneeded. If you need to see an orthopedicsurgeon please let us know before yourappointment. We send you a written dictationafter the visit. This is written as if it is goingto a physician, but we let you distribute it asyou wish.

Payment:We will bill insurance for some parts of ourevaluation. If you have an HMO and need areferral, it will be your responsibility to obtain itprior to your appointment. We will give you theappropriate information to obtain the referralwhen you schedule your appointment.Our clinic is also affiliated with the MDA, sothere are MDA funds to cover appointments forpeople who are residents of Iowa.Helpful Tips for your appointment:• The appointment will take the entire day.There will be a break for lunch. Please letus know ahead of time if you have timeconstraints.• Bring any orthotics, braces or otherdevices that you use, even if you are notcurrently wearing them. It helps us to seewhat works for you and what does not.• Bring a pair of shorts and comfortableshoes for your comfort during theappointment• You may want to bring a book as theremay be some down time during yourappointment• Please note that that your appointmentwill take place in the Institute for Clinicaland Translational Science (ICTS) ClinicalResearch Unit (CRU) at the University ofIowa, Boyd Tower near Elevator A.• The closest parking ramp to the CRU isParking Ramp 1Get Involved!Participate in developing research for CMT.Join the patient contact registry by visitinghttp://rarediseasesnetwork.epi.usf.edu/INCand find out more about CMT.For More Information about CMT:The Charcot-Marie Tooth AssociationP.O. Box 105Glenolden, PA 19036Phone: 800-606-CMTAwww.cmtusa.orgMuscular Dystrophy AssociationNational Headquarters3300 E. Sunrise DriveTucson, AZ 85718(800) 572-1717mda@mdausa.orgwww.mdausa.orgHereditary Neuropathy AssociationP.O. Box 287103New York, NY 10128Phone: 917-648-6971www.hereditaryneuropathy.orgThe Neuropathy Association60 E. 42 nd St. Suite 942New York, NY 10165Phone: 212-692-0662www.neuropathy.orgHNPP Online Support Groupwww.hnpp.orgUniversity of Iowa CMT ClinicMailing Address: University of IowaDepartment of Neurology2007 RCP200 Hawkins DriveIowa City, IA 52242Appointments: Anna Sorey319-384-6362Anna-Sorey@uiowa.eduCharcotMarieToothClinic