Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease

“…One major barrier to comparison is that children with CMEMS have not lived past infancy. Given that our patient and two other reported patients [3,4] shared an identical HRAS mutation which had also been reported in CS, it stands to reason that there is a broader spectrum of possible phenotypes than previously thought for CS, and that mild excess spindle may be underrecognized in CS. Observations of our patient may provide insight to the relationship between these two genetically similar syndromes, and further our understanding of their phenotypic ranges.…”

“…An additional case with the E63K mutation was recently reported in a 5-year-old child with hypotonia, delayed gross motor development, joint contractures, hyperlaxity of distal joints and normal cognitive function [4]. Excess of muscle spindles was found on her muscle biopsy.…”