Spastic paraplegia 11

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.^[1] 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.^[2][3] SPG11 is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive fashion.^[4] Treatment is focused on managing symptoms and may include physical therapy and antispastic medications to prolong muscle control.^[2]

Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. As degeneration continues, symptoms worsen.^[5] If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur.^[5][6] The different forms of HSP are caused by mutations in different genes. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy.^[6][7] 

Signs and symptoms of SPG11 may include:^[4][2]

•  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:^[4]

• 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).^[4][2]

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. You can find clinical trials for individuals with spastic paraplegias at the following link. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates. 
http://www.clinicaltrials.gov/ct2/results?term=spastic+paraplegias

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you find trials of interest. 

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/

If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the ClinicalTrials.gov Web page. Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health.

You can also learn more about current research from the Spastic Paraplegia Foundation.

Spastic Paraplegia Foundation
1605 Goularte Place
Fremont, CA  94539-7241
Tel: 877-773-4483
Fax: 877-773-4483
Email: info@sp-foundation.org
Web site: http://www.sp-foundation.org

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.