Dejerine-Sottas

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

November 24, 2005

Filed under: Studies and Clinical Trials

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.

Alternatives to endotracheal intubation for patients with neuromuscular diseases

November 14, 2005

Filed under: News You Can Use

Servera E, Sancho J, Zafra MJ, Catala A, Vergara P, Marin J: Alternatives to endotracheal intubation for patients with neuromuscular diseases. Am J Phys Med Rehabil 2005;84:851-857.
OBJECTIVE:: To evaluate the usefulness of continuous noninvasive mechanical ventilation and mechanical coughing aids to avoid endotracheal intubation and tracheostomy during episodes of acute respiratory failure in patients with neuromuscular disease. DESIGN:: We conducted a prospective cohort study at the respiratory medicine ward of a university hospital to study the success rate of the use of continuous noninvasive mechanical ventilation and manually and mechanically (CoughAssist) assisted coughing to avert endotracheal intubation in 24 consecutive episodes of acute respiratory failure for 17 patients with neuromuscular disease. The noninvasive mechanical ventilation and coughing aids were used to reverse decreases in oxyhemoglobin saturation and relieve respiratory distress that occurred despite oxygen therapy and appropriate medication. Noninvasive mechanical ventilation was delivered by volume ventilators (Breas PV 501) alternating nasal/oronasal and oral interfaces.
RESULTS:: Noninvasive management was successful in averting death and endotracheal intubation in 79.2% of the acute episodes. There were no significant differences in respiratory function between the successfully treated and unsuccessfully treated groups before the current episode. Bulbar dysfunction was the independent risk factor for failure of noninvasive treatment (P < 0.05; odds ratio, 35.99%; 95% confidence interval, 1.71-757.68). CONCLUSIONS:: Intubation can be avoided for some patients with neuromuscular disease in acute respiratory failure by some combination of noninvasive mechanical ventilation and mechanically assisted coughing. Severe bulbar involvement can limit the effectiveness of noninvasive management. [Read more]

HNF-cure.org e-Newsletter November 2005: CMTUS joins HNF, new programs

November 10, 2005

Filed under: Miscellaneous

Wow! The interest in our newly released patient information booklet continues. If you are a full member and have not received your copy yet, please be patient as we are now sending them out continuously. As we have already announced, all members who have submitted the minimum of a $35 donation, are receiving a copy of this high-quality booklet for free, in addition to having full access to our on-line articles.
We are experiencing a high demand of requests for extra copies to be sent to physicians and other 3rd parties interested in CMT, therefore we have set a nominal price of only $10.00 per copy for any additional copies ordered beyond the free copy to members. To order extra copies please forward checks payable to our office at HNF, P.O. Box 287103 New York, NY 10128. Please remember to include your clear delivery instructions, i.e. name and address of the recipient.
…Following the footsteps of CMTWorld.org, who more than a year ago joined forces with HNF, CMTUS–-which brings along a dedicated group of CMT patients/on-line users–will now also stand by our side as we all move forward for the common benefit of CMT patients.

Molecular alterations resulting from frameshift mutations in peripheral myelin protein 22: Implications for neuropathy severity

November 9, 2005

Filed under: Journal articles

J Neurosci Res. 2005 Nov 4
Johnson JS, Roux KJ, Fletcher BS, Fortun J, Notterpek L.
Department of Neuroscience, College of Medicine, McKnight Brain Institute, University of Florida, Gainesville, Florida.
Alterations in peripheral myelin protein 22 (PMP22) expression are associated with a heterogeneous group of hereditary demyelinating peripheral neuropathies. Two mutations at glycine 94, a single guanine insertion or deletion in PMP22, result in different reading frameshifts and, consequently, an extended G94fsX222 or a truncated G94fsX110 protein, respectively. Both of these autosomal dominant mutations alter the second half of PMP22 and yet are linked to clinical phenotypes with distinct severities. The G94fsX222 is associated with hereditary neuropathy with liability to pressure palsies, whereas G94fsX110 causes severe neuropathy diagnosed as Dejerine-Sottas disease or Charcot-Marie-Tooth disease type IA. To investigate the subcellular changes associated with the G94 frameshift mutations, we expressed epitope-tagged forms in primary rat Schwann cells. Biochemical and immunolabeling studies indicate that, unlike the wild-type protein, which is targeted for the plasma membrane, frameshift PMP22s are retained in the cell, prior to reaching the medial Golgi compartment. Similar to Wt-PMP22, both frameshift mutants are targeted for proteasomal degradation and accumulate in detergent-insoluble, ubiquitin-containing aggregates upon inhibition of this pathway. The extended frameshift PMP22 shows the ability to form spontaneous aggregates in the absence of proteasome inhibition. On the other hand, Schwann cells expressing the truncated protein proliferate at a significantly higher rate than Schwann cells expressing the wild-type or the extended PMP22. In summary, these results suggest that a greater potential for PMP22
aggregation is associated with a less severe phenotype, whereas dysregulation of Schwann cell proliferation is linked to severe neuropathy.

The Christopher and Dana Reeve Paralysis Resource Center

November 6, 2005

Filed under: Action Alerts

As you may know, the Christopher and Dana Reeve Paralysis Resource Center (PRC) is federally funded through the Center for Disease Control and Prevention (CDC). The House and Senate Appropriations Committees are currently negotiating next year’s budget, and there is a chance programs will be cut.
While we will continue to closely monitor the situation, we need your help. If you live in the state of one of the Members of Congress listed below, please call TODAY to urge their support for the highest possible funding level for the CDC Paralysis Activities in partnership with the Christopher Reeve Foundation.
It is very important that all the decision makers hear from their constituents this week and next.
******************************************
Phone Number for Senators:
202-224-3121
Phone Number for Members of the House of Representatives:
202-225-3121
******************************************
Senate Labor, Health and Human Services
Subcommittee Members
Thad Cochran (R-MS)
Larry E. Craig (R-ID)
Mike DeWine (R-OH)
Richard J. Durbin (D-IL)
Judd Gregg (R-NH)
Tom Harkin (D-IA)
Kay Bailey Hutchison (R-TX)
Daniel K. Inouye (D-HI)
Herbert H. Kohl (D-WI)
Mary Landrieu (D-LA)
Patty Murray (D-WA)
Harry Reid (D-NV)
Richard C. Shelby (R-AL)
Ted Stevens (R-AK)
Arlen Specter (R-PA)
House of Representatives Labor, Health and Human Services Subcommittee Members
Randy “Duke” Cunningham (R-CA)
Rosa DeLauro (D-CT)
Kay Granger (R-TX)
Steny H. Hoyer (D-MD)
Earnest Istook (R-OK)
Jesse Jackson (D-IL)
Patrick J. Kennedy (D-RI)
Nita M. Lowey (D-NY)
Anne M. Northup (R-KY)
David R. Obey (D-WI)
John E. Peterson (R-PA)
Ralph Regula (R-OH)
Lucille Roybal-Allard (D-CA)
Don Sherwood (R-PA)
James T. Walsh (R-NY)
Dave Weldon (R-FL)
Roger Wicker (R-MS)

Neurological and Neuromuscular Disease as a Risk Factor for Respiratory Failure in Children Hospitalized With Influenza Infection

November 2, 2005

Filed under: Journal articles

The Advisory Committee on Immunization Practices (ACIP) recommends annual influenza vaccination for children with certain chronic medical conditions to prevent serious complications of influenza infection. Little is known about the relative contribution of each of these chronic medical conditions to the development of serious influenza-associated complications. [Read more]
And in plain English:

Kids With Neurological, Neuromuscular Diseases Need Flu Shot

While U.S. health officials already recommend that a number of children with chronic diseases, such as diabetes, heart disease and lung disorders, be vaccinated for influenza, a new study finds another group of children should be added to that list–those with neurological or neuromuscular diseases.
The reason, according to the study from the Children’s Hospital of Philadelphia and the U.S. Centers for Disease Control and Prevention, is that these children face a higher risk of serious flu-related complications. In fact, the study found that children with neurological or neuromuscular diseases (NNMD) are at a six-fold greater risk of flu-related respiratory failure. [Read more]