Call for Patients to Complete a Questionnaire: Hereditary Neuropathy and Vocal Cord Problems

November 24, 2005

It has been known for some time that certain types of Charcot-Marie-Tooth disorder (CMT) involve the muscles of the larynx (voice box), and there is reason to think that such problems may be more common than doctors have realized. The Hereditary Neuropathy Foundation is supporting a major new research effort to shed light on this problem. As part of this work, we are interested in learning how many people with CMT have problems that may be related to weakness of the vocal folds (vocal cords).

You qualify to complete the questionnaire if you are 18 years old or older and have Charcot-Marie-Tooth disorder. If you agree to be in this study, you will complete a web based questionnaire about your symptoms and disease. It will take about fifteen minutes to complete the questionnaire. There are no known risks associated with your participation in this research beyond those of everyday life. You will not be paid for participating in this questionnaire. To join in this study, click here.

If you have questions or wish to report a research-related problem, you may contact Celia Stewart, Ph.D. at 212-998-5262, cs8@nyu.edu. For questions about your rights as a research participant, you may contact the University Committee on Activities Involving Human Subjects, New York University, 212-998-4808 or human.subjects@nyu.edu.

Call for Patients: Hereditary Neuropathy and Vocal Cord Problems

March 29, 2005

It has been known for some time that certain types of Charcot-Marie-Tooth disorder involve the muscles of the larynx (voicebox). There is reason to think that such problems may be more common than doctors have realized. The Hereditary Neuropathy Foundation is supporting a major new research effort to shed light on this problem. As part of this work, we are interested in examining patients with problems that may be related to weakness of the vocal folds (vocal cords).

You qualify for the examination if you are 18 years old or older and live in the New York City area, and you have noticed any of the following problems:

1. Your voice is hoarse or breathy
2. You have difficulty speaking at loud volumes
3. You run out of breath while speaking
4. Your voice tires quickly
5. You develop shortness of breath while talking
6. Your breathing is noisy, particularly when taking a breath in

The examination is performed in the doctor’s office and takes about 15 minutes. There are no blood draws, needles, EMG testing, x-rays or other tests. The doctor will tell you the results right away, before you leave the office. And you’ll be helping us to better understand vocal cord problems in hereditary neuropathies.

For more information or to schedule an evaluation, please call 212.844.6712.

Lucian Sulica
MD Dept. of Otolaryngology
Beth Israel Medical Center
10 Union Square East, Suite 4J
New York, NY 10003

CMT Database Project Seeks Participants

February 07, 2005

The January/February issue of Quest (from MDA) mentions the search for participants in the CMT Database. You can also contact Carly Siskind at (313) 577-5273 or csiskind@med.wayne.edu.

Clinical trials

February 06, 2005

MDA's web site is listing three clinical trials that people with Dejerine-Sottas are eligible for. Please note that these trials are not designed to test treatments for Dejerine-Sottas in particular; rather, the researchers are looking to determine the safety of creatine monohydrate in children with neuromuscular diseases, develop a painless, noninvasive, diagnostic technique called "EIM" (electrical impedance myography), and compare biological markers in the blood of subjects with and without amyotrophic lateral sclerosis (ALS).

Call for CMT or Dejerine-Sottas Patients

September 17, 2004

The laboratory of Dr. Lisa Baumbach at the University of Miami has recently discovered a new DNA polymorphism in the pmp-22 gene in the CMT1A duplication region. The polymorphism appears to be specific to individuals of African American heritage and was found in conjunction with other disease-causing mutations in two unrelated severely affected CMT patients of African-American descent. Dr. Baumbach?s laboratory is requesting blood specimens from any CMT or Dejerine-Sottas patients of African American heritage, for further molecular studies related to this polymorphism and genotype:phenotype correlations. For further information, please contact

Dr. Lisa Baumbach
University of Miami School of Medicine
Room 6021, MCCD
1601 NW 12 Avenue
Miami, FL 33136
phone (305)243-3997;
fax (305)243-3919;
E-mail: lbaumbac@mednet.med