Spastic Paraplegia 78

Background and History: 

Spastic paraplegia refers to a group of neurological disorders with prominent symptoms of stiffness primarily in the lower limbs.  The first signs and symptoms occur usually in young people and are highly variable.  There are numerous types of spastic paraplegia and most of them are hereditary, and distinguished from each other by the types of symptoms present depending on what brain structures are involved.  Virtually all are progressive disorders with variable ages of onset.   Most also affect the eye.

Clinical Correlations: 

Spastic paraplegia 78 may have its onset in the second decade of life but sometimes later.  The clinical presentation is highly variable and not all individuals have the same signs and symptoms.  The first symptom is usually difficulty in walking as the legs are stiff (spastic).  Unsteadiness (ataxia) plays a role as well.  This is a progressive condition and most patients eventually develop slurred speech, weakness in lower limb muscles, slurred speech, and involuntary fine movements.  Most patients develop some mental impairment with cognitive deficits and difficulties in reasoning but dementia has also been reported.  Highly-arched feet (pes cavus) sometimes occur.  Many adults lose mobility and require assistance with ambulation.

The eyes may not be aligned properly (strabismus) and may have a constant shaky movement (nystagmus).  Some individuals have difficulty looking up.


This condition usually occurs when both members of a gene pair are changed (mutated).  The inheritance pattern is autosomal recessive.  The parents, who each carry one gene mutation, are clinically normal but can expect generally that one in four of their children have this disorder.

Diagnosis and Prognosis: 

The diagnosis is most likely made by a neurologist who may use MRIs to determine the extent and distribution of damage to brain tissue (atrophy). There is no effective treatment known for the general condition but some patients may benefit from physical and vocational therapy along with special education if initiated early.

Nothing is known about longevity.

Additional Information