Term
| Clotting Factor replacement, Gene Therapy, Demopressin |
|
Definition
|
|
Term
|
Definition
| Some patients receive regular infusions to prevent bleeding episodes |
|
|
Term
|
Definition
| Patients may receive clotting factor infusion only when bleeding occurs. |
|
|
Term
| Joint Damage, Inhibitors, internal bleeding |
|
Definition
| Complication of Hemophilia |
|
|
Term
|
Definition
|
|
Term
| Difficulty walking/running, Gower's sign, Enlarged calves, Heart/respiratory issues |
|
Definition
| Symptoms of Duchenne Muscular Dystrophy |
|
|
Term
| Genetic Testing, Muscle Biopsy, Blood test |
|
Definition
| Diagnosis of Duchenne Muscular Dystrophy |
|
|
Term
| Steroids, Gene therapy, Physical therapy, Supportive care |
|
Definition
| Treatment for Duchenne Muscular Dystrophy |
|
|
Term
| Anemia, Pain crisis, Fatigue, Infection, Delayed Growth, Vision problems |
|
Definition
| Sickle-cell Anemia symptoms |
|
|
Term
| Stroke, Organ damage, acute chest syndrome, Splenic Seqyestration |
|
Definition
| Sickle-cell Anemia Complication |
|
|
Term
| Newborn Screening, Blood tests, genetic testing |
|
Definition
| Sickle-cell Anemia Diagnosis |
|
|
Term
| Pain management, Blood transfusions, Hydroxyurea, Bone Marrow/Stem cell Transplant, Preventive Care |
|
Definition
| Sickle-cell Anemia Treatment |
|
|
Term
| Loss of motor skills, Motor weakness, cherry-red spot in the eye, Seizures, Vision/hearing loss Mental deterioration |
|
Definition
| Tay-Sachs disease Symptoms |
|
|
Term
| Enzyme testing, Genetic testing, Eye examination |
|
Definition
| Tay-Sachs disease diagnosis |
|
|
Term
| Seizure control, physical therapy, palliative care |
|
Definition
| Tay-Sachs disease treatment |
|
|
Term
| carrier screening, genetic counseling, prenatal testing |
|
Definition
| Tay-Sachs disease Preventing |
|
|
Term
| Chorea, Dystonia, Slurred speach, impared voluntary movements, loss coordination and balance |
|
Definition
| Huntingtons disease MOTOR symptoms |
|
|
Term
| Memory problems, Dementia, impared judgement and problem-solving |
|
Definition
| Huntingtons disease COGNITIVE symptoms |
|
|
Term
| Depression, anxiety/irritability, Personality changes, obssesive-compulsive behavior |
|
Definition
| Huntingtons disease PHSYCHIATRIC symptoms |
|
|
Term
| Genetic Testing, Imaging, Clinical assesment |
|
Definition
| Huntingtons disease Diagnosis |
|
|
Term
| Chorea, Antidepressant, Antipsychotics, Anticonvulsants |
|
Definition
| Huntingtons disease Treatment MEDICATION |
|
|
