Can Be Homozygous or Can Be Compound Heterozygous
CMT2R is caused by autosomal recessive mutations in the TRIM2 gene.
CMT2R symptoms usually start in infancy. Some of the first signs are motor development delays and hypotonia (floppy muscles, sometimes referred to as “floppy baby”). Severe lower leg muscle weakness and atrophy cause foot deformities such as pes cavus (high arches) and gait disturbances. Walking can be difficult from an early age. A CMTer who has CMT2R will usually experience severe atrophy and weakness in the hands. Disease course is usually severe but with a moderate progression. Significant respiratory involvement from an early age has been reported.
CMT2R is exceedingly rare and there is very little about CMT2R in published literature.