Spastic paraplegia 4

Disease Overview

Spastic paraplegia 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) inherited in an autosomal dominant manner. Disease onset ranges from infancy to older adulthood. SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. SPG4 is caused by mutations in the SPAST gene.[11330][11599] Severity of symptoms usually worsens over time, however some individuals remain mildly affected throughout their lives.[11598] Medications, such as antispastic drugs and physical therapy may aid in stretching spastic muscles and preventing contractures (fixed tightening of muscles).[11330][11599]

Synonyms

• SPG4
• Autosomal dominant spastic paraplegia 4
• Familial spastic paraplegia autosomal dominant 2
• FSP2