Cerebral Palsy, Spastic Quadriplegic, 3

Background and History: 

The term 'cerebral palsy' has long been used to describe a group of conditions, usually beginning at birth, with extensive neurological disease for which there are no identifiable genetic, infectious, gestational, or delivery causes.  As medical knowledge advances and we identify more causes for such disease, the size of this group decreases. 

The condition described here has been identified in 4 siblings of a single family in which a mutation has been found.   

Clinical Correlations: 

Evidence of stiff (spastic) muscles may be present soon after birth.  The head size is slightly below normal.  The spasticity progresses slowly and evidence for intellectual disability becomes apparent.  These signs progress so that by the second decade of life full time assistive care may be required when these children are unable to care for themselves.  Difficulties speaking and swallowing are often present.  Gastrostomy feeding tubes may be required to maintain nutrition.  Seizures may occur but are not common.

Detailed eye examinations have not been reported but crossing of the eyes (strabismus) and abnormal eye movements have been noted.  Imaging studies of the brain has not revealed major structural changes.


A change (mutation) in the DNA of a gene pair is responsible for this condition.  Parents who carry one copy of this change are clinically normal but if both parents carry this mutation, each of their children have a 25% chance of inheriting this condition.

Diagnosis and Prognosis: 

The diagnosis is likely made by a team of pediatricians and neurologists.  Because of the nonspecific nature of the signs, gene studies are necessary to confirm the diagnosis.

No treatment is known and supportive care is required.  Physical and speech therapy might be helpful.  A feeding tube should be considered if food intake by mouth is insufficient to maintain nutrition.

Additional Information
Autosomal recessive