PRIMARY CARE
Recommendation 1
Symptom specific.
Recommendation 1
Identification of characteristic symptoms and genetic testing, along with a detailed patient history, a thorough clinical evaluation and other specialized tests.Recommendation 1
Identification of characteristic symptoms and genetic testing, along with a detailed patient history, a thorough clinical evaluation and other specialized tests.Recommendation 1
Symptom specific.Recommendation 1
Symptom specific.Recommendation 1
~ 15 US-based physicans . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.Recommendation 1
~ 13 trialsFollow to receive regular updates to the latest research development on this disease via email newsletter.