Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

ABSTRACT:

Background

KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.

Case presentation

We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the tongue, and generalized dystonia involving the oromandibular region, right upper and left lower extremi

SUBMITTER: Ng A 

PROVIDER: S-EPMC7296679 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature