Last month, Rare Disease Report spoke with Adeline Vanderver, MD, of the Children's Hospital of Philadelphia, about the pathophysiology and presentation of the rare brain disorder hypermyelination with atrophy of the basal ganglia and cerebellum (H-ABC), and the differences in leukodystrophy presentations.
In this video, she discusses why neurological disorders might not be life-threatening on their own, but what complications can cause severe issues in patients.
Vanderver: There’s nothing life-threatening, per se, about the neurological disability. What can be life-threatening are the secondary complications from that disability. Somebody with very impaired neurological function is more likely to have a bad respiratory illness or succumb to that respiratory illness, or more likely to have problems with urination, have a urinary tract infection and succumb to that illness. There’s nothing, per se, that is life-threatening about TUB4-A or H-ABC, but the complications of your neurologic impairment can occur over time and can be very problematic.
Probably one of the things that I worry most about as a child neurologist is attention to respiratory function and attention to the ability to swallow and eat and get nutrition safely. Any child with H-ABC or TUB4-A socioleukodystrophy, or really any leukodystrophy, needs to be taken care of by a multidisciplinary team that recognizes and can tend to and prevent these complications, and make wise choices with the families’ input about safe feeding, about adequate nutrition and calorie intake, about maintaining good respiratory health, and making sure that when respiratory infections occur, that they are aggressively managed and taken care of to protect the lung function. And then also that they are paying attention to excessive tone or spasticity or dystonia, which can actually impair your respiratory function and impair your function overall.
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