595,906 boys were born in the Netherlands. One hundred and thirty-four of these boys were subsequently diagnosed to be affected with DMD. The calculated incidence of DMD in this period in live male births is 1 in 4480. If the number of pregnancies with an increased risk (34) from these years would be added to the number of live male births with DMD, the ‘‘inci- dence’’ would even be as high as expected from the literature, 1 in 3500. Van Essen estimated the incidence of DMD in the Netherlands in the per- iod 1961–1983 to be 1 in 4215. The incidence of DMD in the birth cohorts 1993–1998 in this study (1 in 4480) is lower because of prenatal testing. Another factor which influenced the lower incidence is that a small num- ber of DMD patients is unknown at the laboratory, i.e., those diagnosed on muscle biopsy only and familial cases confirmed by CK testing only. Prenatal testing for D/BMD resulted in a decrease in the incidence of DMD in the Netherlands [1,2]. doi:10.1016/j.nmd.2007.06.181 References [1] Emery A. Neuromuscul Disord 1991;1:19–29. [2] Essen AJ et al.. Hum Genet 1992;88:258–66. G.P.9.02 Red-green color vision impairment in Duchenne muscular dystrophy Costa, M. 1 ; Oliveira, A. 1 ; Santana, C. 1 ; Ventura, D. 1 ; Zatz, M. 2,* 1 Psicology Institute, Sa ˜ o Paulo, Brazil; 2 Human Genome Research Center USP, Sa ˜ o Paulo, Brazil Dystrophin the protein absent in muscle of Duchenne muscular dys- trophy (DMD) patients is expressed in various tissues. In addition to the full-length dystrophin, other shorter proteins are transcribed from the DMD gene. In the retina, dystrophin is expressed at the level of the outer plexiform layer (Dp260), in the inner limiting membrane and in Mu ¨ ller cells (Dp71). The present study evaluated color vision of 44 DMD patients (mean age = 14.8; SD = 4.9) who were submitted to a battery of four different color tests: Cambridge Colour Test – CCT, Nei- tz Anomaloscope, Ishihara and AO H-R-R. Since the DP260 transcript is spliced to exon 30, patients were divided in two groups: upstream (n = 12) and downstream exon 30 (n = 32). The control group was composed of 75 age-matched healthy male subjects. Forty-seven percent (21/44) of the DMD patients had a red-green color vision defect in the CCT, confirmed by the Neitz Anomaloscope with statistical agreement (p < .001). The Ishihara and the AO-H-R-R had a lower capacity to detect color defects, 5% and 7%, respectively, with no statistical similar- ity between the results of these two tests and CCT or anomaloscope results (p > .05). A negative correlation between the color thresholds and age was found for the controls and DMD patients suggesting a non progressive color defect. Forty-seven percent of patients with dele- tions downstream exon 30 had a red-green defect, which was significantly higher than that expected for the normal (<10%) male population (p < 0.001). In opposition, DMD patients with deletion upstream exon 30 had normal color vision. This color defect might be partially explained due to a retina impairment related to the dystrophin isoform Dp260. In short, here we report for the first time that red-green color vision defect is highly prevalent in DMD patients with deletions down- stream exon 30. doi:10.1016/j.nmd.2007.06.182 G.P.9.03 Respiratory kinematics in Duchenne muscular dystrophy LoMauro, A. 1,* ; D’Angelo, M. 2 ; Pedotti, A. 1 ; Marchi, E. 3 ; Colombo, D. 3 ; Turconi, A. 2 ; Bresolin, N. 3 ; Aliverti, A. 1 1 Politecnico di Milano, Dipartimento di Bioingegneria, Milano, Ita- ly; 2 IRCCS E Medea, NeuroRehabilitation, Bosisio Parini (Lecco), Italy; 3 IRCCS E Medea, Bosisio Parini (Lecco), Italy Introduction: Duchenne muscular dystrophy (DMD) is a genetic dis- ease characterized by progressive loss of muscular strength that, together with spinal and thoracic deformities, leads to a progressive restrictive pul- monary syndrome. Measurements of respiratory function allow clinicians to predict who will require assisted coughing and mechanical ventilation. Pulmonary function tests and maximal respiratory pressures measure- ments are normally used, but they are very often problematic as they require patient’s co-operation. Aims and methods: In order to describe the breathing pattern of these patients, we used optoelectronic plethys- mography (AJRCCM, 2000;161:1546–1552), that provides informations about changes of total chest wall volume (Vcw) and rib cage and abdom- inal compartments, as well as their percentage contribution (% RC and % AB, respectively) to tidal volume and quantifies their desynchronization. We studied 45 DMD patients at different stages of the disease (age: 13.8 ± 1.5 yrs, height: 151 ± 0.3 cm, weight: 51.1 ± 2.7 kg) in supine posi- tion during 3 min of quite breathing. We split data into four groups: still ambulant (A, VC = 1.713 ± 0.307 L), wheelchair bound since less than 1yr (WH1, VC = 1.903 ± 0.168 L), between 1 and 3 yrs (WH2, VC = 1.837 ± 0.198 L), more than 3 yrs (WH3, VC = 1.485 ± 0.105 L). Results: Minute ventilation normalized for the weight decreases passing from group A to WH3 (0.179 ± 0.014, 0.113 ± 0.014, 0.104 ± 0.007, 0.123 ± 0.009 L/min/kg, respectively). This reduction is mainly due to the fall of tidal volume (SW: 7.6 ± 0.7, WH1: 5.0 ± 0.6, WH2: 4.0 ± 0.4, WH3: 6.3 ± 0.4 mL/kg). There is also a correspondence decreasing of %AB, an index of diaphrag- matic activation, among the four groups (75.6 ± 1.7, 64.0 ± 8.9, 65.1 ± 3.5, 56.1 ± 4.4, respectively). Conclusions: The onset of wheelchair use dramatically reduces respiratory ventilation in DMD patients and their ability to expand the chest wall. Besides the restricted chest wall, DMD patients on wheelchair exhibit an impairment of diaphragmatic activity which is compensated by using inspiratory rib cage muscle. Kinematics provides useful indicators without requiring patient cooperation. doi:10.1016/j.nmd.2007.06.183 G.P.9.04 Evaluation and relevance of evaluation tools of cardiac function in Duchenne muscular dystrophy Park, Y.; Moon, J.; Im, S. * Yonsei University College of Medicine, Rehabilitation Medicine, Seoul, Republic of Korea Background: As the improvement of care skill of pulmonary system and following increased longevity for patients with Duchenne muscular dystrophy, greater concerns are on early detection and treatment of car- diac abnormalities which may cause a sudden death. Objective: To evalu- ate the cardiac function and to explore the relevance of the evaluation tools of cardiac function in Duchenne muscular dystrophy (DMD). Meth- ods: Thirty patients with DMD without of any symptoms of heart failure underwent physical examination, cardiac monitoring and neuroendocrine screening tests such as norepinephrine (NE) and brain natriuretic peptide (BNP). Results: Twenty patients showed abnormal electrocardiograpic findings, such as ventricular hypertrophy (36.6%), sinus tachycardia (36.6%), ischemic change (20.0%), T wave inversion (10.0%). Sixteen patients showed low ejection fraction below 59%. There were significant correlations between age and ejection fraction (r = 0.739, p < 0.01), between functional level and ejection fraction (r = 0.523, p < 0.01). BNP level showed significant correlation with ejection fraction (r = 0.469, p < 0.01), with cardiothoracic ratio (r = 0.592, p < 0.01), and with age (r = 0.395, p < 0.05). NE showed significant correlation with cardiothoracic ratio (r = 0.385, p < 0.05). Conclusions: Routine evaluation Abstracts / Neuromuscular Disorders 17 (2007) 764–900 815
595,906 boys were born in the Netherlands. One hundred and
thirty-fourof these boys were subsequently diagnosed to be aected
with DMD. Thecalculated incidence of DMD in this period in live
male births is 1 in 4480.If the number of pregnancies with an
increased risk (34) from these yearswould be added to the number of
live male births with DMD, the inci-dence would even be as high as
expected from the literature, 1 in 3500.Van Essen estimated the
incidence of DMD in the Netherlands in the per-iod 19611983 to be 1
in 4215. The incidence of DMD in the birth cohorts19931998 in this
study (1 in 4480) is lower because of prenatal testing.Another
factor which inuenced the lower incidence is that a small num-ber
of DMD patients is unknown at the laboratory, i.e., those
diagnosedon muscle biopsy only and familial cases conrmed by CK
testing only.Prenatal testing for D/BMD resulted in a decrease in
the incidence ofDMD in the Netherlands [1,2].
doi:10.1016/j.nmd.2007.06.181
References
[1] Emery A. Neuromuscul Disord 1991;1:1929.[2] Essen AJ et al..
Hum Genet 1992;88:25866.
G.P.9.02
Red-green color vision impairment in Duchenne muscular
dystrophy
Costa, M. 1; Oliveira, A. 1; Santana, C. 1; Ventura, D. 1; Zatz,
M. 2,*
1 Psicology Institute, Sao Paulo, Brazil; 2 Human Genome
Research Center
USP, Sao Paulo, Brazil
Dystrophin the protein absent in muscle of Duchenne muscular
dys-trophy (DMD) patients is expressed in various tissues. In
addition to thefull-length dystrophin, other shorter proteins are
transcribed fromthe DMD gene. In the retina, dystrophin is
expressed at the level ofthe outer plexiform layer (Dp260), in the
inner limiting membrane andin Muller cells (Dp71). The present
study evaluated color vision of 44DMD patients (mean age = 14.8; SD
= 4.9) who were submitted to abattery of four dierent color tests:
Cambridge Colour Test CCT, Nei-tz Anomaloscope, Ishihara and AO
H-R-R. Since the DP260 transcriptis spliced to exon 30, patients
were divided in two groups: upstream(n = 12) and downstream exon 30
(n = 32). The control group wascomposed of 75 age-matched healthy
male subjects. Forty-seven percent(21/44) of the DMD patients had a
red-green color vision defect in theCCT, conrmed by the Neitz
Anomaloscope with statistical agreement(p < .001). The Ishihara
and the AO-H-R-R had a lower capacity todetect color defects, 5%
and 7%, respectively, with no statistical similar-ity between the
results of these two tests and CCT or anomaloscoperesults (p >
.05). A negative correlation between the color thresholdsand age
was found for the controls and DMD patients suggesting anon
progressive color defect. Forty-seven percent of patients with
dele-tions downstream exon 30 had a red-green defect, which was
signicantlyhigher than that expected for the normal (
