Case reportCongenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation

- We present a patient with LGMD and congenital mirror movements.
- We detected a novel homozygous mutation in the POMK gene.
- Alpha-dystroglycan is proposed to play a key role in organizing axonal guidance.
- POMK is highly expressed in the human brain and muscle during early development.
- This is the first case in the literature with POMK mutation and mirror movements.

Dystroglycanopathies are a heterogeneous group of muscular dystrophies often associated with variable brain and eye involvement. Glycosylated alpha-dystroglycan (ADG) plays a key role in the development and stability of basement membranes as well as organizing axon guidance in the central nervous system. Congenital mirror movements, either isolated or in association with several genetic syndromes, are defined as inability to perform unimanual movements. We report an adolescent boy with limb-girdle muscular dystrophy due to ADG deficiency and coexisting congenital mirror movements. Genetic work-up revealed a novel homozygous missense mutation in the protein O-mannose kinase (POMK) gene. To our knowledge, this is the first patient in the literature with POMK mutation and congenital mirror movements.