Tongue fasciculations in an infant with spinal muscular atrophy type 1.

ABSTRACT: Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SMA.

SUBMITTER: Giannopoulou EZ 

PROVIDER: S-EPMC4614651 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature