1. Descriptive data analysis of The National DMD/BMD Registry Situation according to May 15, 2008

2. I. Overview of the registry

3. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno I.1 Segmentation of the registry All registry records (N=163) Male patients (N=130)Female carriers (N=33) DMD/BMD Suspect carrier DMD/BMD Verified carrier DMD Patient BMD Patient Female carriers Male patients N = 2 N = 31 N = 24 N = 102 Main part of the registry is formed by male patients with either Duchenne or Becker form of muscular dystrophy. However, also female carriers are monitored in the registry and the information about their health is collected. Intermediate patient N = 4

4. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno I.3 Actual age N130 Mean11,111,1 Median10,4 Min-Max1,5 – 44,0 Age (years) % of patients N33 Mean30,4 Median31,331,3 Min-Max2,8 – 64,1 Age (years) % of patients Female carriersMale patients

5. II. DMD and BMD Patients

6. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno Clinical status II.2 Clinical status and functional state DMD PatientsCount% Clinically symptomatic9290,2 Clinically still asymptomatic109,8 Total102100,0 BMD PatientsCount% Clinically symptomatic151562,562,5 Clinically still asymptomatic937,537,5 Total24100,0 BMD PatientsCount% Ambulant2291,7 Non-ambulant28,3 Total24100,0 DMD PatientsCount% Ambulant6563,7 Non-ambulant3736,3 Total102100,0 Functional state

7. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno II.4 Actual age and age of onset of clinical symptoms DMD Patients BMD Patients N10224 Mean10,115,5 Median9,8 13,1 Min-Max1,5 – 25,83,3 – 44,0 Age (years) % of patients Age of onset of clinical symptoms Age DMD Patients BMD Patients N94*15* Mean2,95,7 Median3,0 6,0 Min-Max0 - 9,02,0 - 10,0 Age (years) % of patients DMD Patients BMD Patients * Age of onset is available only for clinically symptomatic patients (see slide II.2). DMD Patients BMD Patients

8. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno DMD PatientsBMD Patients Count% % Calf pseudohypertrophyYes9694,11458,3 No65,91041,7 Gower's signPositive8886,31041,7 Negative1413,71458,3 Cardiomyopathy Yes76,914,2 No9593,12395,8 Respiratory insufficiencyMild or occasional54,900,0 No9795,124100,0 ScoliosisYes1716,728,3 No8583,32291,7 ContracturesSevere1413,700,0 Mild3938,2625,0 No4948,01875,0 II.7 Occurrence and positivity of symptoms

9. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno II.8 Motor functions DMD Patients BMD Patients Count% % Normal walking / running2524,51250,0 Able to walk > 1 km without support1817,6937,5 Able to walk > 100m without support1110,814,2 Able to walk < 100m without support65,900,0 Able to stand and walk several mts w, support + shoulder girdle wasting 65,900,0 Wheel chair bound3635,328,3 Total102100,024100,0 % of patients DMD Patients BMD Patients Approximately one quarter of patients with Duchenne muscular dystrophy is still normal walking but on the other hand more than one third of them is bound to the wheel chair. Majority of the patients with the Becker form of disease is still without serious walking obstructions.

10. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno II.9 The functional score DMD Patients N102 Mean59,5 Median60 Min-Max10 - 100 BMD Patients N24 Mean82,9 Median85 Min-Max35 - 100 Functional score % of patients DMD Patients BMD Patients

11. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno II.10 Level of creatine kinase CK (µKAT/L) N 22 Mean 75,7 Median 51,8 Min 8,1 Max 285,0 N 86 Mean 216,7 Median 205,0 Min 8,5 Max 900,0 DMD PatientsBMD Patients DMD PatientsBMD Patients µKAT/L Median 25-75% 5-95%

12. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno II.14 Relationship of age and functional score Functional score Age (years) DMD Patients BMD Patients N = 24 N = 102 The decline in functional score with increasing age is more steeper for DMD patients than for BMD patients. This is in agreement with the fact that Duchenne muscular dystrophy is more severe disease with faster degenerative progress. Prediction of the functional score progress with respect to age for DMD patents Prediction of the functional score progress with respect to age for BMD patents

13. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno II.16 Type of mutation Type of genetic mutation DMD PatientsBMD Patients Count% % No mutation found1514,7416,7 Point mutation1716,714,2 Deletion6058,81770,8 Duplication109,828,3 Total102100,024100,0 % of patients DMD Patients BMD Patients

14. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno Number of exon deletions Count% 11728,3 21016,7 3915,0 41118,3 523,3 635,0 711,7 835,0 911,7 1011,7 1411,7 1511,7 Total60*100,0 II.17 Number of exon deletions DMD PatientsBMD Patients Number of exon deletions Count% 1211,8 215,9 3529,4 4635,3 11211,8 1515,9 Total17*100,0 The number of exon deletions is very heterogeneous among the patients, especially among the BMD patients. However, it can be caused by the fact that data from very small number of patients are available. From this point of view it could be dangerous to compare the patients with Duchenne and Becker muscular dystrophy. * Number of exon deletions is available only for patients with deletion type of mutation confirmed.

15. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno II.18a Number of individual exon deletions Exon number Frequency of occurrence Total number of exon deletions = 379

16. Web projektu Diskusní klub projektu HelpZpět Analytické nástrojeSVOD Management datSlužby IS Institute of biostatististic and analyses, Masaryk univerzity Brno II.18b Number of individual exon deletions according to final diagnosis Exon number Frequency of occurrence Total number of exon deletions = 379 DMD Patients BMD Patients Female carriers 1 Intermediate patients