Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis

Research with Linda

Thomas D. Bird, M.D., Chief, Neurology (VA Medical Center); Professor, Neurology and Medical Genetics (University of Washington Medical School) and one of our advisors, sent a journal article on to us titled Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis by Peter James Dyck, MD; William H. Litchy, MD; Sharon Mennerath, BS, Thomas D. Bird, MD; Phillip E. Chance, MD; Daniel J. Schaid, PhD and Arnold El Aronson, PhD.
Three of the authors are familiar to us, Dr. Dyck and Dr. Bird, both of whom are on our advisory committee, and Dr. Chance.
I read the paper with much interest because I have a paralyzed vocal cord but in trying to rewrite it for you in layman's terms I fell short, so I asked Dr. Bird if he would give us a short synopsis of it.
Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis by Peter James Dyck, MD et al published Annals of Neurology Vol 35 No 5 May 1994.
"Dr. Peter Dyck and colleagues have recently described two families with a hereditary nerve disease associated with frequent vocal cord paralysis and shortness of breath. These families are different from the usual kindreds with CMT for several reasons. Onset of symptoms was frequently in infancy or childhood and severe episodic breathing problems were common, including wheezing and stridor. Surgery such as tracheotomy was sometimes necessary to improve breathing. Frequent shortness of breath seemed to be caused by weakness of the diaphragm and other chest and laryngeal muscles. Weakness of the hands and legs was also common. Life span was decreased in some family members because of the severe breathing difficulties.
The individuals in these families did not have slow electrical nerve conduction velocities, another difference compared with the more common form of Type 1 CMT. Therefore, these families were regarded as a variant of Type II CMT (or Type II HMSN, hereditary motor and sensory neuropathy). These particular families are considered a specific and uncommon form of hereditary neuropathy (CMT).
Readers will recognize that some individuals with other forms of CMT have also occasionally experienced vocal cord paralysis, diaphragm paralysis, and shortness of breath. It has not been determined why specific nerves seem to be more commonly affected in certain types of CMT. No systematic study has been done to document the frequency of occurrence of these breathing and vocal cord symptoms in all types of CMT."