Treatment Options for Niemann-Pick Type C
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- Опубліковано 10 жов 2024
- Elizabeth Berry-Kravis, MD, PhD, co-director of the Molecular Diagnostics Section of the Genetic Laboratory at Rush Medical College in Chicago, describes different treatment options for Niemann-Pick Type C (NPC).
NPC is a disabling neurogenetic disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood. This very rare genetic disorder is marked by progressive motor dysfunction and a highly variable symptom profile and onset of symptoms. It can result in the patient’s death soon after birth or manifest as a chronic disorder with symptoms worsening slowly over time.
Can someone diagnosed with FND (Functiona Neurological Disorder) be a NPC patient misdiagnosed? The symptoms are quite similar. Seizures, loss of movements, loss of memory, difficulty swallowing.
That's a great question. Did you find an answer?
available treatment in USA? in which hospital