Spastic paraplegia 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties (dysarthria), and reduced bladder control. Additionally, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in most individuals with SPG11. Onset of symptoms typically occurs during infancy or adolescence. SPG11 is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive fashion. Treatment is focused on managing symptoms and may include physical therapy and antispastic medications to prolong muscle control.

• Spasticity (progressive muscle stiffness)
• Paraplegia(eventual paralysis of the lower limbs)
• Numbness, tingling, or pain in the arms and legs
• Disturbance in the nerves used for muscle movement
• Intellectual disability
• Exaggerated reflexes of the lower limbs
• Speech difficulties (dysarthria)
• Reduced bladder control
• Muscle wasting

Less common features, include:

• Difficulty swallowing (dysphagia)
• High-arched feet
• Scoliosis
• Involuntary movements of the eyes

Age at time of symptom onset varies from infancy to early adulthood, with onset in infancy to adolescence being most common. Learning disability may begin in childhood. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance (often 10 to 20 years after symptom onset).

• Medications for leg spasticity (antispastic drugs)
• Medications to assist in bladder control (anticholinergic antispasmodic drugs)
• Regular physician therapy
• Botulinum toxin and intrathecal baclofen for severe spasticity

Regular outpatient clinic evaluations are recommended to adjust medications and physical therapy/rehabilitation routines. Routine brain MRI and electrophysiological investigations (muscle and nerve studies) may be useful to follow the progression of the disease.

The severity of symptoms in SPG11 worsen over time, with most individuals experiencing full clinical symptoms 10 years after onset. Most individuals with SPG11 require wheelchair assistance 10-20 years after onset. Intellectual disability and cognitive decline additionally typically worsen over time and may include short-term memory impairment, constant fluctuations in emotions, reduced verbal abilities, and attention deficits.