SMC1A Family Contact Registry: Overview of our Community.
[Q10] Country
| Answer | Count | Percent |
|
Albania | 1 | 0.57% |
|
Algeria | 2 | 1.14% |
|
Australia | 4 | 2.27% |
|
Austria | 2 | 1.14% |
|
Belarus | 1 | 0.57% |
|
Belgium | 2 | 1.14% |
|
Brazil | 3 | 1.7% |
|
Bulgaria | 1 | 0.57% |
|
Canada | 7 | 3.98% |
|
Chile | 3 | 1.7% |
|
China | 2 | 1.14% |
|
Cyprus | 1 | 0.57% |
|
Finland | 1 | 0.57% |
|
France | 12 | 6.82% |
|
Germany | 6 | 3.41% |
|
Ireland | 1 | 0.57% |
|
Israel | 1 | 0.57% |
|
Italy | 3 | 1.7% |
|
Kazakhstan | 1 | 0.57% |
|
Korea, South | 1 | 0.57% |
|
Mexico | 2 | 1.14% |
|
Netherlands | 1 | 0.57% |
|
Philippines | 1 | 0.57% |
|
Poland | 1 | 0.57% |
|
Romania | 2 | 1.14% |
|
Russia | 9 | 5.11% |
|
Saudi Arabia | 1 | 0.57% |
|
South Africa | 4 | 2.27% |
|
Spain | 2 | 1.14% |
|
Sweden | 2 | 1.14% |
|
Switzerland | 1 | 0.57% |
|
Tanzania | 1 | 0.57% |
|
Turkey | 5 | 2.84% |
|
Uganda | 1 | 0.57% |
|
United Kingdom | 13 | 7.39% |
|
United States | 74 | 42.05% |
|
Uruguay | 1 | 0.57% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 176 | 100 % |
[Q2] Is the Patient diagnosed with the SMC1A mutation?
| Answer | Count | Percent |
|
Yes | 175 | 99.43% |
|
Other | 1 | 0.57% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 176 | 100 % |
Is the Patient diagnosed with the SMC1A mutation? - Text Data for Other
| 04/30/2026 | 147096448 | SMC |
[Q3] Has the Patient ever had Seizure(s)?
| Answer | Count | Percent |
|
Yes | 163 | 92.61% |
|
No | 8 | 4.55% |
|
Not Sure | 5 | 2.84% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 176 | 100 % |
Has the Patient ever had Seizure(s)? - Text Data for Other
[Q8] If yes, are the seizures hard to control?
| Answer | Count | Percent |
|
Yes | 139 | 78.98% |
|
No | 15 | 8.52% |
|
Not Sure | 6 | 3.41% |
|
Doesn't Apply (No Seizures) | 9 | 5.11% |
|
Other | 7 | 3.98% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 176 | 100 % |
If yes, are the seizures hard to control? - Text Data for Other
| 12/11/2025 | 143535742 | Depending on her health and other factors |
| 10/07/2025 | 141557469 | Recently started having cluster of seizures only used rescue medicine twice |
| 08/31/2025 | 140418831 | At first they were easy to control un like these days they become so hard to control |
| 05/11/2023 | 103416304 | Currently no seizures |
| 12/11/2022 | 93669900 | Sometimes |
| 12/11/2022 | 93669779 | Amanda is seizure free for six weeks then she has cluster seizures about 1-5 in a seven day period. |
| 12/11/2022 | 93668646 | She has only had 1 cluster in February of 2022 |
[Q5] Do you think the Patient has typical CDLS features?
| Answer | Count | Percent |
|
Yes | 25 | 14.2% |
|
No | 112 | 63.64% |
|
Not Sure | 32 | 18.18% |
|
Other | 7 | 3.98% |
|
|---|---|---|---|---|---|---|---|---|
| Total | 176 | 100 % |
Do you think the Patient has typical CDLS features? - Text Data for Other
| 11/02/2026 | 152530080 | She has some but not all as hers is DEE and not CDLS |
| 12/11/2025 | 143535742 | Not physically but mentally yes |
| 12/10/2025 | 143505629 | Small stature and some mild facial features (eyebrow shape); downturned mouth; feet look like feet but toes and shape are a bit odd |
| 08/31/2025 | 140418831 | Some features |
| 12/11/2022 | 93669746 | Some |
| 12/11/2022 | 93669689 | To some extent |
| 12/11/2022 | 93668646 | A few of the lesser features |
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