CAVIPMR is a rare progressive neurodegenerative disorder characterized by cerebellar atrophy, truncal hypotonia, global developmental delay, scoliosis, diminished deep tendon reflexes, and ophthalmological abnormalities.  Patients may have dysmorphic facial features such as deep set eyes, retrognathia, a short philtrum, gingival hyperplasia, and microcephaly.  Patients may also suffer from intellectual disability and speech delay.  Symptoms of CAVIPMR usually present from birth.  The disease has so far been reported in only three families.

Diagnosis of the disorder can be made based on a genetic analysis of the EMC1 gene.  Treatment is currently restricted to managing symptoms.  Patients may benefit from physical therapy and educational aids.

CAVIPMR follows an autosomal recessive pattern of inheritance.  The disorder is caused by mutations in the EMC1 gene, encoding an endoplasmic reticulum complex subunit.  So far, two homozygous missense mutations and a frameshift mutation in this gene have been found to result in the disorder.