HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

Correspondence to:

BRIEF COMMUNICATIONS: M. Wohlgemuth, E. L. van der Kooi, R. G. van Kesteren, S. M. van der Maarel, and G. W. Padberg Ventilatory support in facioscapulohumeral muscular dystrophy Neurology 2004; 63: 176-178 [Abstract] [Full text] [PDF]

Correspondence: Submit a response to this article

Correspondence published:

Reply to Bird et al

Marielle Wohlgemuth   (15 September 2004)

Ventilatory support in facioscapulohumeral muscular dystrophy

Gregory T Carter, Thomas D. Bird   (2 September 2004)

Reply to Bird et al 15 September 2004
Marielle Wohlgemuth, Dept. of Neurology University Medical Center Nijmegen, Reinier Postlaan 4, 6500 HB Nijmegen, the Netherlands Send Correspondence to journal: Re: Reply to Bird et al m.wohlgemuth{at}neuro.umcn.nl Marielle Wohlgemuth	We thank Drs. Bird and Carter for their comments. We have not seen respiratory failure as the presenting symptom of FSHD before. The patient they describe has a 12-15kb fragment on chromosome 4q35, which is often associated with an early onset and more severe form of FSHD. This patient is 39 years old, still ambulatory and on nocturnal ventilation. His sister died early because of respiratory failure but without a diagnosis of a neuromuscular disease. It is interesting to know if their patient had a kyphoscoliosis and if a concomitant cardiopulmonary or neuromuscular disease in this case is excluded. We do see patients with a relatively milder form of FSHD, with decreased pulmonary functions (lower vital capacity and lower maximal respiratory pressures) with and without symptoms of nocturnal hypoventilation. Annual measurement of their pulmonary functions by a pulmonary physician is our current policy. It is important to realize that respiratory insufficiency can occur in FSHD and that even less affected patients can develop respiratory problems. Moreover, (in rare cases) respiratory insufficiency can even be the presenting symptom in FSHD.
Ventilatory support in facioscapulohumeral muscular dystrophy 2 September 2004
Gregory T Carter, University of Washington 1809 Cooks Hill Road, Centralia, WA 98531, Thomas D. Bird Send Correspondence to journal: Re: Ventilatory support in facioscapulohumeral muscular dystrophy gtcarter{at}comcast.net Gregory T Carter, et al.	We read with great interest the recent study by Wohlgemuth et al on ventilatory support in facioscapulohumeral muscular dystrophy (FSHD). [1] This article points out an important clinical problem that may be overlooked. Their study suggests that respiratory insufficiency develops relatively late in the course of the disease, when there is prominent limb weakness. These findings, as they note, confirm earlier studies. [2] We report a patient who presented at age 32 years with severe respiratory compromise, requiring hospitalization and mechanical ventilation. At that time he did not carry a diagnosis of any neuromuscular disease. His forced vital capacity (FVC) on admission was 18% predicted. He required tracheotomy and was discharged on night time mechanical ventilation. A muscle biopsy of the right deltoid showed non-specific myopathic changes and he was given a tentative diagnosis of congenital or limb girdle myopathy. He was referred to the Muscular Dystrophy Association clinic at the University of Washington where he was noted to have facial weakness and scapular winging. DNA testing for FSH was obtained. The test revealed a 12-15kb fragment in the FSHD region on chromosome 4q35, consistent with the diagnosis of FSHD (University of Iowa Genetics Laboratory). This man is a Native American from the Cheyenne River Sioux tribe. He had an older sister who died years before at age 25 from acute respiratory failure but was never diagnosed with any neuromuscular disorder. There are no other known affected family members. Despite obvious weakness, our patient remains ambulatory and is independent in all of his activities of daily living. At age 39 years he still requires full time nocturnal ventilation through a tracheotomy at night. His current FVC is 10% predicted. This case report demonstrates that, in rare instances, respiratory failure may be the presenting sign and symptom in FSHD and that respiratory failure may be seen before there is severe involvement of the limbs. References 1. Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology. 2004; 63(1):176-8. 2. Kilmer DD, Abresch RT, Aitkens SG, Carter GT, Fowler WM, Johnson ER, McDonald CM. Profiles of neuromuscular disease: facioscapulohumeral dystrophy. Am J Phys Med Rehabil 1995; 74(5):S131-139