Spastic Ataxia 7, with Miosis

Background and History: 

This is a very rare neurological disorder affecting speech and movement of the arms and legs combined with abnormal pupils.

Clinical Correlations: 

Individuals are born with small pupils (miosis) of the eye.  These respond poorly to light as well.  Some patients have dancing eyes (nystagmus) and difficulty moving their eyes.  Children are late in learning to walk and speech is often slurred. The arms and legs are spastic, that is, they are stiff with hyperactive reflexes.  Ataxia, (unsteadiness and difficulties in balancing) is a cardinal feature.  There is little progression of the neurologic signs. 


The family tree patterns suggest autosomal dominant inheritance as parents transmit the condition directly to their children.  Nothing is known about the gene that causes this condition.

Diagnosis and Prognosis: 

Diagnosis is made on the basis of the pupil anomalies and the stiff muscles and unsteadiness.  Nothing is known about treatment or progression of disease.

Additional Information
Autosomal dominant