| Item | Content |
|---|
| Research project name |
Research Project on the Rare / Intractable Disease |
| Study title |
Study on epidemiology, clinical characteristics, diagnosis and treatment guidelines of Hyperekplexia |
| Name of principal investigator |
Takeshi Taketani |
| Name of institution of the principal investigator |
Department of Pediatrics, Shimane University School of Medicine |
| Target disease |
Hyperekplexia |
| Registry name |
|
| Purpose of registry |
Survey of natural history, Investigation into the number or the distribution of patients, Epidemiological study, Genetic analysis study, Provision of information to registered patients, Provision of information to physicians in charge
|
| Overview of registry |
1) Family history, 2) perinatal history, 3) age of onset, 4) age at diagnosis, 5) diagnosis prior to diagnosis of Hyperekplexia, 6) development at diagnosis, 7) symptom(s) supported diagnosis, 8) stimuli causing symptom(s), 9) increase of head-retraction reflex, 10) duration of symptom(s), 11) complication(s) at diagnosis, 12) blood tests, 13) image findings, 14) electroencephalogram findings, 15) clinical course, 16) present symptom(s), 17) harmful effect(s) by symptom(s), 18) present complications, 19) genetic counseling, 20) previous treatment and its effect(s), 21) present treatment and its effect(s), 22) present living conditions, 23) genetic analysis results
|
| Research item |
Sex, Date of birth, Address, Contact (TEL, FAX, e-mail address, etc.), Information about the current medical institutions of patients, Place of birth, Family history, Past medical history, Complication, History of present illness, History of treatment, Laboratory data, Clinical course, ADL, QOL, Functional prognosis, Prognosis, Others (Gene mutations)
|
| Contact |
Takeshi Taketani |
| E-mail address |
ttaketani●med.shimane-u.ac.jp |
| Registry URL |
|
* If the E-mail address is shown, replace "●" with "@", please.
