Internuclear ophthalmoplegia

Spastic Ataxia, Optic Atrophy, Mental Retardation

Clinical Characteristics
Ocular Features: 

Optic atrophy is generally but not always present.  Internuclear ophthalmoplegia and nystagmus have been reported. 

Systemic Features: 

This progressive neurodegenerative disorder has its onset in early childhood with delayed psychomotor development, spastic ataxia of the limbs, and dysarthria.  Tremor, dysmetria, and poor coordination of fine movements are often present.  A sensorineural hearing loss has been found in several individuals.  Peripheral neuropathy has been reported as well.  The nature and degree of cognitive impairment has not been quantified.

Genetics

The presence of consanguinity in one family and affected sibs in another suggest autosomal recessive inheritance but nothing is known about the genotype.  The signs and symptoms resemble those found in other spastic ataxias and this may not be a unique disorder.

Optic atrophy is also found in autosomal recessive SPAX4 (613672) and in autosomal dominant SPAX7 (108650).      

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 
Subscribe to RSS - Internuclear ophthalmoplegia